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Littérature scientifique sur le sujet « Inborn errors of »

Auteur : Grafiati
Publié le 4 juin 2021
Mis à jour le 29 juillet 2024

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Articles de revues sur le sujet "Inborn errors of"

1

BURTON, BARBARA K. « Inborn Errors of Metabolism ». Pediatrics 80, no 4 (1 octobre 1987) : 600. http://dx.doi.org/10.1542/peds.80.4.600.

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In Reply.— I thank Drs Wiswell and Weisse for their interesting observations regarding the occurrence of intracranial hemorrhage in term infants with inborn errors of metabolism. There is no question that intracranial hemorrhage is a potentially devastating, although presumably uncommon, complication of these disorders. In my personal experience, neonates with inborn errors of metabolism who have experienced intracranial hemorrhages have all had obvious predisposing factors, such as severe metabolic acidosis, which would provide a clue to the underlying diagnosis.
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Levy, Paul A. « Inborn Errors of Metabolism ». Pediatrics In Review 30, no 4 (1 avril 2009) : e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

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WISWELL, THOMAS E., et MARTIN E. WEISSE. « Inborn Errors of Metabolism ». Pediatrics 80, no 4 (1 octobre 1987) : 599–600. http://dx.doi.org/10.1542/peds.80.4.599.

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To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases. Dr Burton is to be commended for presenting a lucid, rational approach for the diagnosis of these oft-confusing afflictions. However, there is another manifestation of these disorders, not previously recognized in the pediatric literature, that we wish to address.
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Levy, Paul A. « Inborn Errors of Metabolism ». Pediatrics In Review 30, no 4 (1 avril 2009) : 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

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Kiess, Wieland, Anna Kirstein et Skadi Beblo. « Inborn errors of metabolism ». Journal of Pediatric Endocrinology and Metabolism 33, no 1 (28 janvier 2020) : 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

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Berry, Helen K. « Inborn Errors of Metabolism ». Endocrinologist 2, no 4 (juillet 1992) : 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.

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Waber, Lewis. « Inborn Errors of Metabolism ». Pediatric Annals 19, no 2 (1 février 1990) : 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

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Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, Janice C. Dutra, Moacir Wajner, Clovis M. D. Wannmacher et Lenir T. Montagner. « Inborn Errors of Metabolism ». Clinical Pediatrics 28, no 11 (novembre 1989) : 494–97. http://dx.doi.org/10.1177/000992288902801101.

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Nyhan, William L., et Deborah L. Marsden. « Inborn errors of metabolism ». Current Opinion in Pediatrics 2, no 4 (août 1990) : 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.

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Molleston, Jean P., et David H. Perlmutter. « Inborn errors of metabolism ». Current Opinion in Pediatrics 4, no 5 (octobre 1992) : 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.

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Thèses sur le sujet "Inborn errors of"

1

Ristoff, Ellinor. « Inborn errors in the metabolism of glutathione / ». Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-392-9/.

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Pastore, Nunzia. « Gene therapy for inborn errors of metabolism ». Thesis, Open University, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.590807.

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Inborn errors of liver metabolism are frequent causes of morbidity and mortality especially in children. For several of these diseases, treatment approaches depend on ,manipulation of the affected metabolic pathway by diet, drugs, vitamin cofactors, enzyme induction, end-product replacement, and alternative pathway activation. Unfortunately, these approaches often remain unsatisfactory especially in the face of illness or catabolism. Ideally, transfer of the normal genes in the liver cells that are defective might restore the metabolic function. The goal of my PhD thesis was to develop gene-based therapeutic strategies to correct a life-threatening inborn error of liver metabolism, Crigler-Najjar syndrome type I (CNI). CNI is a severe inborn error of bilirubin metabolism due to mutations of the uridine diphospho-glucuronosyl transferase lAl (UGTIA1) gene, Affected patients have elevations of serum bilirubin, and they have to spend extended hours under bilirubin lights throughout childhood and adolescence. Despite this therapy, they remain at risk of brain damage when intercurrent infections may increase production of bilirubin above that which can be controlled by the bilirubin light therapy. Thus, patients with CNI often are advised to consider liver transplantation. Therefore, alternative therapies are highly needed to overcome the mortality and morbidity associated with transplantation procedure, and risks of life-long immunosuppression. Gene therapy has the potential to provide a definitive cure for patient with CNI My studies have focused on the development of gene therapy strategies for this disease. First, I investigated in Gunn rats, the animal model for CNI, the efficacy of adeno-associated viral (AA V) vector-mediated muscledirected gene therapy and I found that serotype I AA V vector expressing UOTIAI resulted in expression of UGTIAl protein and functionally active enzyme in injected muscles, and aj 50% reduction in serum bilirubin levels for at least 1 year post-injection. Taken together, these data show that clinically relevant and sustained reduction of serum bilirubin levels can be achieved by simple and safe intramuscular injections. Following initial problems with intravenous injections of AA V2 vector, a major success has been achieved with AA V2/8 vectors for liver-directed gene therapy of hemophilia. Encouraged by these results and by the possibility of achieving full correction of the hyperbilirubineotia with systemic delivery, next I focused on the design and optimization of an AA V2I8 vector for liver-directed gene therapy of CNI. I generated multiple expression cassettes expressing the UGTIAl gene inserted into the AA V2/8 vectors for in vivo testing. The results of these studies showed that AAV2/8 vector with codon optimized UGTlAI gene tender the control of the hepatocyte-specific LP} promoter resulted in improved and sustained correction of hyperbilirubinemia in Gunn rats. Taken together, these data demonstrate the development of an optimal expression cassette for liver-directed gene therapy of CNI and form the preclinical basis for the development of a gene therapy trial for this severe disorder.
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Kocic, Vesna Garovic. « Methionine auxotrophy in inborn errors of cobalamin metabolism ». Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56756.

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Several of the inborn errors of vitamin B$ sb{12}$ (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls with those from patients with a selective deficiency of MeCbl (cblE and cblG) and with those from patients with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF). Cells were grown in methionine and folic acid free media and in fully supplemented medium. Control cells were able to grow in the deficient medium supplied with homocysteine, cobalamin and folate, while mutant cells were not, due to their inability to synthesize methionine from its immediate metabolic precursor, homocysteine. This differential growth is useful for screening for genetic defects of methionine biosynthesis. Moreover, by correcting methionine auxotrophy in these cells, it may be possible to isolate genes which code for the products that are deficient in these disorders.
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Byck, Susan. « Cross-correctional studies in inborn errors of vitamin B12 metabolism ». Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=59259.

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Human skin fibroblasts derived from patients with all 7 known inborn errors of vitamin B$ sb{12}$ metabolism have been studied for functional integrity of methylmalonyl CoA mutase and methionine synthase. Cocultivation of cblC and cblF fibroblasts in the absence of polyethylene glycol resulted in a twofold increase over the expected in both ($ sp{14}$C) propionate and ($ sp{14}$C) methyltetrahydrofolate incorporation into acid-precipitable material, suggesting that metabolic cooperation between cells occurs. CblD fibroblasts, which are biochemically similar to cblC cells (Goodman et al, 1970; Willard et al, 1977), do not cooperate metabolically when mixed with cblF cells. Partial correction in phenotype was seen in mixtures of cblD and cblG cells, but not cblC and cblG cells. These observations lend further support for the division of cblC and cblD disease into two discrete complementation classes. Cocultivation of cblF fibroblasts with both cblE and cblG cells also resulted in partial correction in phenotype.
($ sp{14}$C) Propionate incorporation in both cblC and cblF cells exposed to conditioned medium from control cells was increased more than twofold. ($ sp{14}$C) methyltetrahydrofolate incorporation in cblC cells exposed to conditioned medium from cblF cells was increased twofold. This suggests the presence of a diffusible factor correcting the defect in the mutant cell lines.
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Black, Duncan Arthur. « Aspects of purine and pyrimidine metabolism ». Doctoral thesis, University of Cape Town, 1989. http://hdl.handle.net/11427/26590.

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In Chapter 1 a review of the literature concerning aspects of erythrocyte membrane transport and metabolism, and purine and pyrimidine metabolism is presented. The effects of pH, pO₂ and inorganic phosphate (Pi) on the uptake and metabolism of hypoxanthine by erythrocytes has been studied in Chapter 2. Uptake of hypoxanthine and accumulation of inosine 5'-monophosphate (IMP) were markedly increased at acid pH, high external phosphate concentrations, and low pO₂. Release of accumulated IMP as hypoxanthine occurred at alkaline pH values and low external phosphate concentrations. Conditions favouring IMP accumulation gave rise, in the absence of hypoxanthine, to a corresponding increase in 5'-phosphoribosyl-1-pyrophosphate (PRPP). Intracellular phosphate concentrations were markedly pH dependent and a model is presented whereby hypoxanthine uptake and release are controlled by intracellular concentrations of inorganic phosphate and 2,3- bisphosphoglycerate (2,3-DPG). These allosteric effectors influence, in opposing ways, two enzymes governing IMP accumulation, namely PRPP synthetase and 5'-nucleotidase. These metabolic properties suggest that the erythrocyte could play a role in the removal of hypoxanthine from anoxic tissue. In Chapter 3 the kinetics and mechanism of transport of orotate across the human erythrocyte membrane and the effect of pH and inorganic phosphate on its metabolism (in the erythrocyte) have been studied. It has been shown that orotate enters erythrocytes with non-saturable kinetics and with a capacity of 190 μmoles/1 packed cells/min at a concentration of 4-6 mmolar. The presence of competition for transport by a number of anions and the lack of competition by uridine is indicative of transport by a general anion transporter, with the ability for concentrative uptake in the absence of other external anions being compatible with transport via a ping-pong mechanism. Inhibition of transport by the specific band 3 inhibitors DIDS and CHCA confirm that transport is via the band 3 anion transporter. This explains the lack of significant uptake of orotate by most differentiated tissues which lack the intact band 3 protein. However, the demonstration of band 3 in rat hepatocytes (Cheng and Levy, 1980) provides a mechanism for the orotate transport which has been observed in liver (Handschumacher and Coleridge, 1979). Changes in pH and inorganic phosphate (Pi) concentrations have been shown to have marked effects on the relative quantities of metabolic products produced by the erythrocyte from orotate. There was an increase in orotate metabolised with increasing Pi, an effect augmented by lowering the pH, and most easily explained by the allosteric activation of PRPP synthetase by Pi. The increase in UTP levels with decreasing pH may be the consequence of both increased PRPP availability for the formation of uridine nucleotide from orotate, and decreased conversion of UMP to uridine by pyrimidine 5'-nucleotidase, which is known to be inhibited by phosphate. The accumulation of UDP sugars is optimal at a phosphate concentration of 10 mmolar, which is unexplained but would be compatible with an inhibitory effect of Pi on CTP synthetase. A PRPP wasting cycle at alkaline pH values is proposed to explain the apparent paradox where no PRPP was observed to accumulate in erythrocytes (Chapter 2) at pH values of 7.6 and above in the presence of 10 mmolar phosphate and no added hypoxanthine, yet the metabolism of orotate, which is a PRPP utilising reaction, at alkaline pH values was readily demonstrable here. This (apparent paradox) can be resolved if one assumes that even in the absence of added hypoxanthine and demonstrable intracellular IMP there are sufficient quantities of hypoxanthine and/or IMP to maintain a PRPP wasting cycle at alkaline pH values. The cycle is interrupted at acidic pH values as phosphate levels rise and inhibit 5'-nucleotidase, an effect augmented by the decreasing levels of 2,3-DPG which accompany decreasing pH. This wasting cycle has recently been confirmed by P. Berman (unpublished). The kinetics of orotate uptake by erythrocytes and its eventual release as uridine provides a role for the erythrocyte in the transport and distribution of pyrimidines to peripheral tissues. A model is proposed and involves the de novo production of orotate in the liver. In the next step erythrocytes take up the orotate secreted by the liver into the circulation, convert it into an intermediate buffer store of uridine nucleotides, whose distribution is a function of pH and phosphate concentration, and eventually release it as uridine, which is a readily available form of pyrimidine for utilisation by peripheral nucleated cells. The enhancement of uptake of labelled orotate into nucleic acids of cultured cells is demonstrated here. The degradative half of the cycle proposes that uracil and palanine are the predominant degradative forms of pyrimidines produced by peripheral cells, and their ultimate metabolic fate is complete catabolism in the liver to CO₂ and water. In the final chapter the possible role of the human erythrocyte in the prevention of reperfusion injury has been investigated. The development of a model of renal ischaemia in the rat is described. The ability of human erythrocytes, "primed" by preincubating in acid medium of high Pi concentration and low pO₂, to take up hypoxanthine in a concentrative manner when perfused through ischaemic rat kidney is demonstrated. Attempts to demonstrate improved survival and renal function in rats with "primed" human erythrocytes prior to reperfusion were, however, unsuccessful. It is further demonstrated that "unprimed" human erythrocytes, resident in ischaemic rat kidney for 3 hours, take up hypoxanthine and convert it to IMP. that erythrocytes could play a physiological prevention of reperfusion injury.
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6

Moras, Emily. « Mitochondrial cobalamin binding proteins in patients with inborn errors of cobalamin metabolism ». Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=97972.

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Vitamin B12 (cobalamin, Cbl) is required as a cofactor for two human enzymes: methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Fibroblasts from patients with inborn errors of cobalamin metabolism have been classified into nine distinct complementation classes ( cblA-cblH and mut). Previous studies have shown that cobalamin binds MCM in mitochondria and MS in the cytosol. Cobalamin binding patterns were analyzed in crude mitochondrial fractions obtained from normal and mutant fibroblasts. Crude mitochondrial fractions from wildtype fibroblasts confirmed that the majority of [57Co]Cbl eluted with MCM. However, in six of the nine disorders, at least one previously unidentified mitochondrial cobalamin binding protein was observed to bind [57Co]Cbl. The proportion of [57Co]Cbl that binds, is increased when a deficiency in either adenosylcobalamin synthesis or utilization prevents binding to MCM. Furthermore, unique cobalamin binding profiles emerged, demonstrating how known mutations in these patients affect cobalamin binding to accessory proteins.
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MIGNANI, LUCA. « Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models ». Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558461.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code for proteins involved in different pathways. PKAN and CoPAN are two neuropathologies of this group, respectively caused by mutations in PANK2 and COASY genes, which encode for proteins directly involved in the synthesis of Coenzyme A. The transient downregulation of the two zebrafish orthologues of PANK2 and CoASY, respectively pank2 and coasy, induces the onset of specific phenotypes comparable to human pathologies, suggesting the possibility of using Danio rerio as a model for the study of XXX and a tool to discover potential therapeutic strategies. The study was followed by the generation of Knock-Out models for pank2 and coasy and their subsequent characterization. CRISPR/Cas9 technology was used, which allowed us to obtain mutant lines for pank2 and coasy. Analysis performed on pank2 Knock-Out, revealed no significant changes in gene expression that could compensate the lack of pank2 (pank1a and pank1b), or in genes that could compensate the absence of the protein (coasy). However, Western Blot analysis demonstrated a significant reduction in pank2 levels in mutant embryos. Based on previously obtained data which indicated aberrant neuronal development, evaluation of the nervous system development of mutant embryos and the brains of adult individuals was performed using several techniques. The results obtained do not show significant defects in the development of the main neuronal regions both in embryos and in mutant adults. The analysis of the vascular system instead highlighted a morphological alteration at the level of the caudal venous plexus. This results partially confirms what was found in Knock-Down models, suggesting the importance of pank2 for the correct development of the vessels. Specific stains for primordial germ cells showed a decrease in this population in mutant embryos at early stages of development, defects that are probably implicated in the testicular atrophy observed in adults of 1 year of age. This result is similar to what was observed in the mouse model for PKAN which is mainly characterized by azoospermia. A preliminary analysis of the behaviour of the mutant larvae did not reveal any particular difference, while the study of the stress-induced response in adults showed a decrease in the behaviour associated with stress in the mutants. The results indicate that pank2 is involved in various pathways in zebrafish, specifically the formation of vessels, the correct development of germ cells and in the neural circuits involved in the stress response. Furthermore, we successfully generated a CoPAN model in zebrafish inducing mutations in coasy. To date, the phenotypical analysis of this model demonstrate that individuals carrying homozygotes mutation cannot reach adulthood and die before day 15 of development. We also noted the absence of swimming bladder in mutant individuals at 5 days of development. Further analyses will be carried out to better understand the mechanisms that link the onset of this phenotype and the lack of coasy. In conclusion, we generated two models one for for inborn errors of CoA biosynthesis in Danio rerio, their characterization highlights different phenotypes related to the absence of pank2 and coasy that could be useful to better understand the mechanisms underlying these pathologies and can be used to screen molecules with therapeutic potential.
I modelli animali vengono utilizzati per investigare la patogenesi e i processi molecolari coinvolti nell’insorgenza di malattie umane. Danio rerio, ha assunto nell’ultimo decennio un ruolo predominante per via di alcune caratteristiche come la facilità d’utilizzo, l’elevato numero di embrioni ottenibili, la possibilità di seguire lo sviluppo embrionale e un genoma completamente sequenziato. Con il termine Neurodegenerazione con accumulo di ferro cerebrale (NBIA) si indica una famiglia di malattie, caratterizzate da un accumulo di ferro a livello cerebrale. Tutte le forme di NBIA conosciute sono indotte da mutazioni in singoli geni che codificano per proteine coinvolte in diversi processi cellulari. PKAN e CoPAN sono due di queste patologie causate rispettivamente da mutazioni dei geni PANK2 e COASY, che codificano per proteine coinvolte nella sintesi del Coenzima A. La downregolazione dei due ortologhi di zebrafish di PANK2 e CoASY, rispettivamente pank2 e coasy, ha dimostrato l’insorgenza di fenotipi paragonabili alle patologie umane suggerendo la possibilità di usare Danio rerio come modello per lo studio di PKAN e CoPAN. Lo studio è proseguito con la generazione di modelli Knock-Out per pank2 e coasy e dalla loro caratterizzazione. È stata utilizzata la tecnologia CRISPR/Cas9, che ha permesso di ottenere linee mutanti per pank2 e coasy. L’analisi di espressione genica sui KO di pank2 non ha rilevato cambiamenti significativi in geni che potrebbero sopperire alla funzione di pank2 (pank1a e pank1b), o in geni coinvolti nella sintesi del CoA (coasy). Analisi dei livelli proteici hanno dimostrato una significativa riduzione dei livelli di pank2 negli embrioni mutanti. Sulla base dei dati ottenuti in precedenza che indicavano uno sviluppo neuronale aberrante, è stata eseguita una valutazione dello sviluppo del sistema nervoso degli embrioni e del cervello di individui adulti utilizzando diverse tecniche. I risultati ottenuti dimostrano che sia negli embrioni che negli adulti mutanti non sono presenti rilevanti difetti nello sviluppo delle principali aree neuronali. L’analisi del sistema vascolare ha evidenziato un’alterazione morfologica del plesso venoso causale, risultato che conferma in parte quello visto in modelli KO per pank2 suggerendo ulteriormente l’importanza di pank2 nello sviluppo dei vasi. È stata osservata una diminuzione del numero di cellule primordiali germinali negli embrioni, difetti che probabilmente è implicato nell’atrofia testicolare osservata negli individui adulti. Questo risultato è in linea con quanto documentato nel modello murino per PKAN che è caratterizzato soprattutto per azoospermia. Un’analisi comportamentale delle larve non ha rilevato alcuna differenza, mentre lo studio della risposta indotta da stress nell’adulto ha dimostrato una diminuzione del comportamento associato a stress nei mutanti. I risultati ottenuti ci hanno permesso di dimostrare che pank2 è implicato in diversi pathways in zebrafish, nello specifico la formazione di vasi, nel corretto sviluppo di cellule germinali e nei circuiti neurali implicati nella risposta allo stress. Il secondo obiettivo della nostra analisi è stata la generazione di una linea mutante per coasy, creando un modello di CoPAN in zebrafish. La caratterizzazione di questo modello a livello fenotipo ha dimostrato che individui omozigoti per la mutazione non riesco a raggiungere lo stadio adulto ma muoiono entro il 15 giorno di sviluppo, inoltre è stata documentata l’assenza della vescia natatoria in individui mutanti a 5 giorni. Ulteriori analisi andranno effettuate per meglio comprendere i meccanismi che legano questo fenotipo alla mancanza di coasy. I risultati ottenuti evidenziano differenze rispetto ai controlli che potrebbero essere utili per comprendere i meccanismi alla base di queste patologie e/o per lo screening di potenziali target terapeutici.
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MIGNANI, LUCA. « Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models ». Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558476.

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Résumé :
Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code for proteins involved in different pathways. PKAN and CoPAN are two neuropathologies of this group, respectively caused by mutations in PANK2 and COASY genes, which encode for proteins directly involved in the synthesis of Coenzyme A. The transient downregulation of the two zebrafish orthologues of PANK2 and CoASY, respectively pank2 and coasy, induces the onset of specific phenotypes comparable to human pathologies, suggesting the possibility of using Danio rerio as a model for the study of XXX and a tool to discover potential therapeutic strategies. The study was followed by the generation of Knock-Out models for pank2 and coasy and their subsequent characterization. CRISPR/Cas9 technology was used, which allowed us to obtain mutant lines for pank2 and coasy. Analysis performed on pank2 Knock-Out, revealed no significant changes in gene expression that could compensate the lack of pank2 (pank1a and pank1b), or in genes that could compensate the absence of the protein (coasy). However, Western Blot analysis demonstrated a significant reduction in pank2 levels in mutant embryos. Based on previously obtained data which indicated aberrant neuronal development, evaluation of the nervous system development of mutant embryos and the brains of adult individuals was performed using several techniques. The results obtained do not show significant defects in the development of the main neuronal regions both in embryos and in mutant adults. The analysis of the vascular system instead highlighted a morphological alteration at the level of the caudal venous plexus. This results partially confirms what was found in Knock-Down models, suggesting the importance of pank2 for the correct development of the vessels. Specific stains for primordial germ cells showed a decrease in this population in mutant embryos at early stages of development, defects that are probably implicated in the testicular atrophy observed in adults of 1 year of age. This result is similar to what was observed in the mouse model for PKAN which is mainly characterized by azoospermia. A preliminary analysis of the behaviour of the mutant larvae did not reveal any particular difference, while the study of the stress-induced response in adults showed a decrease in the behaviour associated with stress in the mutants. The results indicate that pank2 is involved in various pathways in zebrafish, specifically the formation of vessels, the correct development of germ cells and in the neural circuits involved in the stress response. Furthermore, we successfully generated a CoPAN model in zebrafish inducing mutations in coasy. To date, the phenotypical analysis of this model demonstrate that individuals carrying homozygotes mutation cannot reach adulthood and die before day 15 of development. We also noted the absence of swimming bladder in mutant individuals at 5 days of development. Further analyses will be carried out to better understand the mechanisms that link the onset of this phenotype and the lack of coasy. In conclusion, we generated two models one for for inborn errors of CoA biosynthesis in Danio rerio, their characterization highlights different phenotypes related to the absence of pank2 and coasy that could be useful to better understand the mechanisms underlying these pathologies and can be used to screen molecules with therapeutic potential.
I modelli animali vengono utilizzati per investigare la patogenesi e i processi molecolari coinvolti nell’insorgenza di malattie umane. Danio rerio, ha assunto nell’ultimo decennio un ruolo predominante per via di alcune caratteristiche come la facilità d’utilizzo, l’elevato numero di embrioni ottenibili, la possibilità di seguire lo sviluppo embrionale e un genoma completamente sequenziato. Con il termine Neurodegenerazione con accumulo di ferro cerebrale (NBIA) si indica una famiglia di malattie, caratterizzate da un accumulo di ferro a livello cerebrale. Tutte le forme di NBIA conosciute sono indotte da mutazioni in singoli geni che codificano per proteine coinvolte in diversi processi cellulari. PKAN e CoPAN sono due di queste patologie causate rispettivamente da mutazioni dei geni PANK2 e COASY, che codificano per proteine coinvolte nella sintesi del Coenzima A. La downregolazione dei due ortologhi di zebrafish di PANK2 e CoASY, rispettivamente pank2 e coasy, ha dimostrato l’insorgenza di fenotipi paragonabili alle patologie umane suggerendo la possibilità di usare Danio rerio come modello per lo studio di PKAN e CoPAN. Lo studio è proseguito con la generazione di modelli Knock-Out per pank2 e coasy e dalla loro caratterizzazione. È stata utilizzata la tecnologia CRISPR/Cas9, che ha permesso di ottenere linee mutanti per pank2 e coasy. L’analisi di espressione genica sui KO di pank2 non ha rilevato cambiamenti significativi in geni che potrebbero sopperire alla funzione di pank2 (pank1a e pank1b), o in geni coinvolti nella sintesi del CoA (coasy). Analisi dei livelli proteici hanno dimostrato una significativa riduzione dei livelli di pank2 negli embrioni mutanti. Sulla base dei dati ottenuti in precedenza che indicavano uno sviluppo neuronale aberrante, è stata eseguita una valutazione dello sviluppo del sistema nervoso degli embrioni e del cervello di individui adulti utilizzando diverse tecniche. I risultati ottenuti dimostrano che sia negli embrioni che negli adulti mutanti non sono presenti rilevanti difetti nello sviluppo delle principali aree neuronali. L’analisi del sistema vascolare ha evidenziato un’alterazione morfologica del plesso venoso causale, risultato che conferma in parte quello visto in modelli KO per pank2 suggerendo ulteriormente l’importanza di pank2 nello sviluppo dei vasi. È stata osservata una diminuzione del numero di cellule primordiali germinali negli embrioni, difetti che probabilmente è implicato nell’atrofia testicolare osservata negli individui adulti. Questo risultato è in linea con quanto documentato nel modello murino per PKAN che è caratterizzato soprattutto per azoospermia. Un’analisi comportamentale delle larve non ha rilevato alcuna differenza, mentre lo studio della risposta indotta da stress nell’adulto ha dimostrato una diminuzione del comportamento associato a stress nei mutanti. I risultati ottenuti ci hanno permesso di dimostrare che pank2 è implicato in diversi pathways in zebrafish, nello specifico la formazione di vasi, nel corretto sviluppo di cellule germinali e nei circuiti neurali implicati nella risposta allo stress. Il secondo obiettivo della nostra analisi è stata la generazione di una linea mutante per coasy, creando un modello di CoPAN in zebrafish. La caratterizzazione di questo modello a livello fenotipo ha dimostrato che individui omozigoti per la mutazione non riesco a raggiungere lo stadio adulto ma muoiono entro il 15 giorno di sviluppo, inoltre è stata documentata l’assenza della vescia natatoria in individui mutanti a 5 giorni. Ulteriori analisi andranno effettuate per meglio comprendere i meccanismi che legano questo fenotipo alla mancanza di coasy. I risultati ottenuti evidenziano differenze rispetto ai controlli che potrebbero essere utili per comprendere i meccanismi alla base di queste patologie e/o per lo screening di potenziali target terapeutici.
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9

MIGNANI, LUCA. « Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models ». Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558458.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code for proteins involved in different pathways. PKAN and CoPAN are two neuropathologies of this group, respectively caused by mutations in PANK2 and COASY genes, which encode for proteins directly involved in the synthesis of Coenzyme A. The transient downregulation of the two zebrafish orthologues of PANK2 and CoASY, respectively pank2 and coasy, induces the onset of specific phenotypes comparable to human pathologies, suggesting the possibility of using Danio rerio as a model for the study of XXX and a tool to discover potential therapeutic strategies. The study was followed by the generation of Knock-Out models for pank2 and coasy and their subsequent characterization. CRISPR/Cas9 technology was used, which allowed us to obtain mutant lines for pank2 and coasy. Analysis performed on pank2 Knock-Out, revealed no significant changes in gene expression that could compensate the lack of pank2 (pank1a and pank1b), or in genes that could compensate the absence of the protein (coasy). However, Western Blot analysis demonstrated a significant reduction in pank2 levels in mutant embryos. Based on previously obtained data which indicated aberrant neuronal development, evaluation of the nervous system development of mutant embryos and the brains of adult individuals was performed using several techniques. The results obtained do not show significant defects in the development of the main neuronal regions both in embryos and in mutant adults. The analysis of the vascular system instead highlighted a morphological alteration at the level of the caudal venous plexus. This results partially confirms what was found in Knock-Down models, suggesting the importance of pank2 for the correct development of the vessels. Specific stains for primordial germ cells showed a decrease in this population in mutant embryos at early stages of development, defects that are probably implicated in the testicular atrophy observed in adults of 1 year of age. This result is similar to what was observed in the mouse model for PKAN which is mainly characterized by azoospermia. A preliminary analysis of the behaviour of the mutant larvae did not reveal any particular difference, while the study of the stress-induced response in adults showed a decrease in the behaviour associated with stress in the mutants. The results indicate that pank2 is involved in various pathways in zebrafish, specifically the formation of vessels, the correct development of germ cells and in the neural circuits involved in the stress response. Furthermore, we successfully generated a CoPAN model in zebrafish inducing mutations in coasy. To date, the phenotypical analysis of this model demonstrate that individuals carrying homozygotes mutation cannot reach adulthood and die before day 15 of development. We also noted the absence of swimming bladder in mutant individuals at 5 days of development. Further analyses will be carried out to better understand the mechanisms that link the onset of this phenotype and the lack of coasy. In conclusion, we generated two models one for for inborn errors of CoA biosynthesis in Danio rerio, their characterization highlights different phenotypes related to the absence of pank2 and coasy that could be useful to better understand the mechanisms underlying these pathologies and can be used to screen molecules with therapeutic potential.
I modelli animali vengono utilizzati per investigare la patogenesi e i processi molecolari coinvolti nell’insorgenza di malattie umane. Danio rerio, ha assunto nell’ultimo decennio un ruolo predominante per via di alcune caratteristiche come la facilità d’utilizzo, l’elevato numero di embrioni ottenibili, la possibilità di seguire lo sviluppo embrionale e un genoma completamente sequenziato. Con il termine Neurodegenerazione con accumulo di ferro cerebrale (NBIA) si indica una famiglia di malattie, caratterizzate da un accumulo di ferro a livello cerebrale. Tutte le forme di NBIA conosciute sono indotte da mutazioni in singoli geni che codificano per proteine coinvolte in diversi processi cellulari. PKAN e CoPAN sono due di queste patologie causate rispettivamente da mutazioni dei geni PANK2 e COASY, che codificano per proteine coinvolte nella sintesi del Coenzima A. La downregolazione dei due ortologhi di zebrafish di PANK2 e CoASY, rispettivamente pank2 e coasy, ha dimostrato l’insorgenza di fenotipi paragonabili alle patologie umane suggerendo la possibilità di usare Danio rerio come modello per lo studio di PKAN e CoPAN. Lo studio è proseguito con la generazione di modelli Knock-Out per pank2 e coasy e dalla loro caratterizzazione. È stata utilizzata la tecnologia CRISPR/Cas9, che ha permesso di ottenere linee mutanti per pank2 e coasy. L’analisi di espressione genica sui KO di pank2 non ha rilevato cambiamenti significativi in geni che potrebbero sopperire alla funzione di pank2 (pank1a e pank1b), o in geni coinvolti nella sintesi del CoA (coasy). Analisi dei livelli proteici hanno dimostrato una significativa riduzione dei livelli di pank2 negli embrioni mutanti. Sulla base dei dati ottenuti in precedenza che indicavano uno sviluppo neuronale aberrante, è stata eseguita una valutazione dello sviluppo del sistema nervoso degli embrioni e del cervello di individui adulti utilizzando diverse tecniche. I risultati ottenuti dimostrano che sia negli embrioni che negli adulti mutanti non sono presenti rilevanti difetti nello sviluppo delle principali aree neuronali. L’analisi del sistema vascolare ha evidenziato un’alterazione morfologica del plesso venoso causale, risultato che conferma in parte quello visto in modelli KO per pank2 suggerendo ulteriormente l’importanza di pank2 nello sviluppo dei vasi. È stata osservata una diminuzione del numero di cellule primordiali germinali negli embrioni, difetti che probabilmente è implicato nell’atrofia testicolare osservata negli individui adulti. Questo risultato è in linea con quanto documentato nel modello murino per PKAN che è caratterizzato soprattutto per azoospermia. Un’analisi comportamentale delle larve non ha rilevato alcuna differenza, mentre lo studio della risposta indotta da stress nell’adulto ha dimostrato una diminuzione del comportamento associato a stress nei mutanti. I risultati ottenuti ci hanno permesso di dimostrare che pank2 è implicato in diversi pathways in zebrafish, nello specifico la formazione di vasi, nel corretto sviluppo di cellule germinali e nei circuiti neurali implicati nella risposta allo stress. Il secondo obiettivo della nostra analisi è stata la generazione di una linea mutante per coasy, creando un modello di CoPAN in zebrafish. La caratterizzazione di questo modello a livello fenotipo ha dimostrato che individui omozigoti per la mutazione non riesco a raggiungere lo stadio adulto ma muoiono entro il 15 giorno di sviluppo, inoltre è stata documentata l’assenza della vescia natatoria in individui mutanti a 5 giorni. Ulteriori analisi andranno effettuate per meglio comprendere i meccanismi che legano questo fenotipo alla mancanza di coasy. I risultati ottenuti evidenziano differenze rispetto ai controlli che potrebbero essere utili per comprendere i meccanismi alla base di queste patologie e/o per lo screening di potenziali target terapeutici.
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Yamani, Lama. « Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism ». Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=112320.

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Cobalamin must be metabolized intracellularly in order to bind two enzymes: methionine synthase in cytoplasm and methylmalonyl-CoA mutase in mitochondria. Defects in this process cause different inborn errors of cobalamin metabolism (cblA-cblG and mut). A previous study described a cobalamin-binding protein, in addition to methylmalonyl-CoA mutase, in crude mitochondrial fractions. The amount of [57Co]cobalamin bound to this protein was increased in cblB, mut and cblD variant2 cell lines, compared to control cell lines. In the present study, this protein was identified as transcobalamin (TC). Mitochondrial fractions from a cblB cell line were incubated with anti-TC antibodies, which precipitated the cobalamin-bound protein. Analysis of mitochondrial and cytoplasmic fractions isolated from a chloroquine-incubated cblF cell line showed that isolated mitochondrial fractions contain lysosomal material, suggesting that the identified TC is lysosomal. Quantification of cobalamin-bound TC levels in whole cell extracts showed significant increases in cblB and mut groups compared to control cell lines.
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Livres sur le sujet "Inborn errors of"

1

Jürgen, Schaub, Van Hoof François 1935-, Vis H. L, Nestlé Nutrition S. A et Nestlé Nutrition Workshop (24th : 1989 : Brussels, Belgium), dir. Inborn errors of metabolism. New York : Raven Press, 1991.

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1921-, Fernandes J., Saudubray J. M. 1937- et Tada K. 1930-, dir. Inborn metabolic diseases : Diagnosis and treatment. Berlin : Springer-Verlag, 1990.

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Houser, Christine M. Pediatric Genetics and Inborn Errors of Metabolism. New York, NY : Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0581-2.

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H, Fensom Anthony, dir. Genetic biochemical disorders. Oxford : Oxford University Press, 1985.

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Benson, P. F. Genetic biochemical disorders. Oxford [Oxfordshire] : Oxford University Press, 1985.

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H, Fensom Anthony, dir. Genetic biochemical disorders. Oxford : Oxford University Press, 1986.

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Kari, Carol. Gaucher's disease : A nurse's handbook : Clinical Center. [Bethesda, Md.?] : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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Salzer, Elisabeth. Identifying Novel Inborn Errors of the Immune System. Wiesbaden : Springer Fachmedien Wiesbaden, 2017. http://dx.doi.org/10.1007/978-3-658-16796-7.

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1921-, Fernandes J., Saudubray J. M. 1937- et Van den Berghe, Georges, 1938-, dir. Inborn metabolic diseases : Diagnosis and treatment. 2e éd. Berlin : Springer-Verlag, 1995.

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J, Shaw Duncan, dir. Molecular genetics of human inherited disease. Chichester : Wiley, 1995.

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Chapitres de livres sur le sujet "Inborn errors of"

1

Kamboj, Manmohan K. « Inborn Errors of Metabolism ». Dans Neurodevelopmental Disabilities, 53–67. Dordrecht : Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0627-9_4.

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Holzman, Robert S., Thomas J. Mancuso, Navil F. Sethna et James A. DiNardo. « Inborn Errors of Metabolism ». Dans Pediatric Anesthesiology Review, 377–86. New York, NY : Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-1617-4_24.

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Holzman, Robert S. « Inborn Errors of Metabolism ». Dans Pediatric Anesthesiology Review, 607–20. Cham : Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-60656-5_43.

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Holzman, Robert S. « Inborn Errors of Metabolism ». Dans Pediatric Anesthesiology Review, 435–45. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-48448-8_30.

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Arnemann, J. « Inborn errors of metabolism ». Dans Springer Reference Medizin, 1239–40. Berlin, Heidelberg : Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3508.

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Arnemann, J. « Inborn errors of metabolism ». Dans Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg : Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3508-1.

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Goetsch, Allison L., Dana Kimelman et Teresa K. Woodruff. « Inborn Errors of Metabolism ». Dans Fertility Preservation and Restoration for Patients with Complex Medical Conditions, 113–39. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52316-3_7.

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Roesser, Jessica L. « Inborn Errors of Metabolism ». Dans Encyclopedia of Autism Spectrum Disorders, 1–2. New York, NY : Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_27-3.

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Burlina, Alberto, Andrea Celato et Alessandro P. Burlina. « Inborn Errors of Metabolism ». Dans Prognosis of Neurological Diseases, 217–47. Milano : Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_19.

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Babineau, Shannon E. « Inborn Errors of Metabolism ». Dans Mount Sinai Expert Guides, 326–39. Chichester, UK : John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118621042.ch29.

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Actes de conférences sur le sujet "Inborn errors of"

1

Batani, V., E. Benetti, J. Mahajne, F. Segala, C. Minici, M. Lanzillotta, D. Colavito et E. Della Torre. « POS0376 HUMAN INBORN ERRORS OF IMMUNITY IN IgG4 RELATED DISEASE ». Dans EULAR 2024 European Congress of Rheumatology, 12-15 June. Vienna, Austria. BMJ Publishing Group Ltd and European League Against Rheumatism, 2024. http://dx.doi.org/10.1136/annrheumdis-2024-eular.3221.

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Fatouh, Mohamed. « 597 Organization and provision of services for better management of inborn errors of metabolism ». Dans Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Liverpool, 28–30 June 2022. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2022. http://dx.doi.org/10.1136/archdischild-2022-rcpch.320.

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Siddiqui, Duygu Özbek, et Leyla Tümer. « 200 Do doctors know what they do not know about inborn errors of metabolism ». Dans Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Glasgow, 23–25 May 2023. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2023. http://dx.doi.org/10.1136/archdischild-2023-rcpch.275.

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Busack, Leonie Marie, Stephanie Thee, Yvonne Liu, Christine Allomba, Niklas Ziegahn, Apolline Tosolini, Charlotte O. Pioch et al. « Multiple-breath washout for the detection of lung disease in patients with inborn errors of immunity ». Dans ERS International Congress 2023 abstracts. European Respiratory Society, 2023. http://dx.doi.org/10.1183/13993003.congress-2023.pa4472.

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Andrea, Largent, Kathi Lambert, Chiang Kristy, Shumlak Natali, Quan-Zhen Li, Kelly Hudkins, Denny Liggitt et al. « 203 Insights into lupus biology from inborn errors of immunity : immunopathogenesis of STAT1 gain-of- function autoimmunity ». Dans LUPUS 21ST CENTURY 2022 CONFERENCE, Abstracts of Sixth Scientific Meeting of North American and European Lupus Community, Tucson, AZ, USA – September 20–23, 2022. Lupus Foundation of America, 2022. http://dx.doi.org/10.1136/lupus-2022-lupus21century.7.

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Cunha, Daniela, Brenno Gonçalves, Tamiris Barros et Andréa Silva. « A variant found in the RELA gene in a patient with autoinflammatory disease : Inborn Errors of Immunity ? » Dans International Symposium on Immunobiologicals. Instituto de Tecnologia em Imunobiológicos, 2022. http://dx.doi.org/10.35259/isi.2022_52181.

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Rosso, Mattia, et Federico Rodriguez-Porcel. « Neuropsychiatric Presentations in Late-onset Inborn Errors of the Metabolism : A Systematic Review of the Literature (P2-12.008) ». Dans 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202742.

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Khalil, Youssef, Rohit Hirachan, Francesca Mazzacuva, Helen Prunty, Philippa Mills et Peter Clayton. « OC39 Diagnosis and monitoring treatment for inborn errors of bile acid synthesis : moving towards dried blood spot analyses ». Dans Abstracts of the BSPGHAN 38th Annual Meeting, 20–22 March 2024, The Bristol Hotel, Bristol, UK. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/flgastro-2024-bspghan.38.

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de Melo, Laura Defensor Ribeiro, Saul Alquez Montano, Maria Avanise Yumi Minami et Ana Paula Andrade Hamad. « Case series on type I gangliosidosis at a reference service for inborn errors of metabolism : from diagnostic strategies to therapeutic perspectives ». Dans SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774551.

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Sampagar, Abhilasha, Sudeep Gaddam et Anushree Cm. « 1637 Spectrum of cases of inborn errors of immunity and their clinical and laboratory profile : a case series from a tertiary care hospital in South India ». Dans Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.762.

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Rapports d'organisations sur le sujet "Inborn errors of"

1

Tao, Yang, Victor Alchanatis et Yud-Ren Chen. X-ray and stereo imaging method for sensitive detection of bone fragments and hazardous materials in de-boned poultry fillets. United States Department of Agriculture, janvier 2006. http://dx.doi.org/10.32747/2006.7695872.bard.

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Résumé :
As Americans become increasingly health conscious, they have increased their consumptionof boneless white and skinless poultry meat. To the poultry industry, accurate detection of bonefragments and other hazards in de-boned poultry meat is important to ensure food quality andsafety for consumers. X-ray imaging is widely used for internal material inspection. However,traditional x-ray technology has limited success with high false-detection errors mainly becauseof its inability to consistently recognize bone fragments in meat of uneven thickness. Today’srapid grow-out practices yield chicken bones that are less calcified. Bone fragments under x-rayshave low contrast from meat. In addition, the x-ray energy reaching the image detector varieswith the uneven meat thickness. Differences in x-ray absorption due to the unevenness inevitablyproduce false patterns in x-ray images and make it hard to distinguish between hazardousinclusions and normal meat patterns even by human visual inspection from the images.Consequently, the false patterns become camouflage under x-ray absorptions of variant meatthickness in physics, which remains a major limitation to detecting hazardous materials byprocessing x-ray images alone.Under the support of BARD, USDA, and US Poultry industries, we have aimed todeveloping a new technology that uses combined x-ray and laser imaging to detect bonefragments in de-boned poultry. The technique employs the synergism of sensors of differentprinciples and has overcome the deficiency of x-rays in physics of letting x-rays work alone inbone fragment detection. X-rays in conjunction of laser-based imaging was used to eliminatefalse patterns and provide higher sensitivity and accuracy to detect hazardous objects in the meatfor poultry processing lines.Through intensive research, we have met all the objectives we proposed during the researchperiod. Comprehensive experiments have proved the concept and demonstrated that the methodhas been capable of detecting frequent hard-to-detect bone fragments including fan bones andfractured rib and pulley bone pieces (but not cartilage yet) regardless of their locations anduneven meat thickness without being affected by skin, fat, and blood clots or blood vines.
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