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Academic literature on the topic 'Iron Regulation Abnormalities'
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Journal articles on the topic "Iron Regulation Abnormalities"
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Y., Kusumo Adi Arji Atmanto, Alim Abdullah Agus, and Arif Mansyur. "Hereditary Hemochromatosis: an Inherited Abnormality of Iron Regulation." International Journal of Current Science Research and Review 05, no. 05 (2022): 1585–95. https://doi.org/10.5281/zenodo.6562625.
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<strong>ABSTRACT: </strong>Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease characterized by abnormalities in iron regulation, mostly due to mutations in the HFE gene, leading to increased iron absorption due to hepcidin deficiency. The classification of HH is based on the type of mutated gene, which must be distinguished from non-genetic conditions that cause secondary elevations in serum iron levels such as multiple transfusions and increased iron supplementation. Pathophysiological mechanisms of HH include increased absorption of iron in the upper intestine, decreased expression of the iron regulatory hormone hepcidin, altered function of the HFE protein, and tissue damage and fibrogenesis caused by iron overload. The human body is physiologically unable to excrete excess iron load so excess iron in serum will be deposited in various organs, causing organ dysfunction. The clinical manifestations of hemochromatosis vary widely depending on the location of iron deposition in the organ. The classic clinical triad of hemochromatosis is liver cirrhosis, skin pigmentation, and diabetes mellitus. Hemochromatosis can be screened for and diagnosed by examining serum ferritin levels, transferrin saturation, unsaturated iron-binding capacity, total iron-binding capacity, liver biopsy, magnetic resonance imaging, and genetic testing. The main treatment for hemochromatosis at this time is phlebotomy although other therapeutic methods can also be used to help lower iron levels and improve the patient's clinical course, such as therapy with chelating agents, <em>erythrocytopharesis</em>, and liver transplantation. If hemochromatosis is not treated, the patient can experience progressive liver damage leading to cirrhosis and hepatocellular carcinoma, and complications due to damage to various tissues and organs.
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Nemeth, Elizabeta, Olivier Loreal, Caroline Le Lan, et al. "Altered Hepcidin Regulation in Hereditary Hemochromatosis and Dysmetabolic Hyperferritinemia." Blood 106, no. 11 (2005): 3590. http://dx.doi.org/10.1182/blood.v106.11.3590.3590.
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Abstract Hepcidin, the key iron-regulatory hormone synthesized by the liver, blocks iron absorption in duodenum and iron recycling from macrophages. Hepcidin dysregulation is implicated in the pathogenesis of several iron disorders. Hepcidin deficiency was observed in most types of hereditary hemochromatosis, including the HFE-related hemochromatosis, where decreased levels of hepcidin mRNA were found in patients with HFE mutations and in mice lacking HFE. However, levels of the bioactive hepcidin peptide in this disease have not been evaluated. We analyzed urinary hepcidin concentrations in a large cohort of patients with hepatic diseases associated with iron dysregulation, including untreated and treated HFE hemochromatosis (HH), dysmetabolic hyperferritinemia (DYSH) and alcoholic cirrhosis (AC). In untreated HH patients (n=33), hepcidin levels were marginally increased in comparison to controls (n=71). However, the hepcidin/ferritin ratio, an index of appropriateness of hepcidin response to iron load, was decreased in untreated HH group compared to controls, suggesting that hepcidin levels were inappropriately low for the degree of iron loading. In treated HH patients (n=41), hepcidin levels were decreased when compared to either controls or untreated HH group, but the hepcidin/ferritin ratio was not statistically different from the control group ratio. Since hemoglobin levels in the iron-depleted HH group remained unchanged, hepcidin decrease is likely not related to hypoxia, but rather demonstrates partial responsiveness to changes in iron stores. In alcoholic cirrhosis (n=43), hepcidin levels were decreased when compared to controls which may be due to decreased hemoglobin levels observed in these patients and to the replacement of hepcidin-producing hepatocytes by scar tissue. Patients with DYSH (n=40) had increased hepcidin levels in comparison to the controls. Although the underlying cause is yet unclear, the increased hepcidin levels in DYSH could be a contributing factor for the characteristic iron accumulation in both macrophages and parenchymal cells, similar to anemia of chronic diseases. Our study suggests that dysregulation of hepcidin is a likely cause of iron metabolism abnormalities in HH and in DYSH.
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QUINLAN, G. J., Y. CHEN, T. W. EVANS, and J. M. C. GUTTERIDGE. "Iron signalling regulated directly and through oxygen: implications for sepsis and the acute respiratory distress syndrome." Clinical Science 100, no. 2 (2001): 169–82. http://dx.doi.org/10.1042/cs1000169.
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Reactive oxygen species produced at toxic levels are damaging species. When produced at sub-toxic levels, however, they are involved as second messengers in numerous signal transduction pathways. In addition to these findings, we can add the concept that iron (often viewed as the ‘villain’ in free radical biology) can also be considered as a signalling species. Iron is intimately involved in the regulation of its own storage, compartmentalization and turnover. During adult respiratory distress syndrome (ARDS) and sepsis, such regulation may be aberrant or altered in some predisposed way. Such changes may have profound implications for tissue damage, and for the modulation of the inflammatory response in these patients. The search for a genetic predisposition in patients that leads to the development of ARDS associated with abnormalities in iron turnover and signalling would seem to be an important and logical progression for studies into the disease. These may lead eventually to the design of effective treatment regimens that involve the control of iron.
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Ward, Pauline P., Marisela Mendoza-Meneses, Grainne A. Cunningham, and Orla M. Conneely. "Iron Status in Mice Carrying a Targeted Disruption of Lactoferrin." Molecular and Cellular Biology 23, no. 1 (2003): 178–85. http://dx.doi.org/10.1128/mcb.23.1.178-185.2003.
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ABSTRACT Lactoferrin is a member of the transferrin family of iron-binding glycoproteins present in milk, mucosal secretions, and the secondary granules of neutrophils. While several physiological functions have been proposed for lactoferrin, including the regulation of intestinal iron uptake, the exact function of this protein in vivo remains to be established. To directly assess the physiological functions of lactoferrin, we have generated lactoferrin knockout (LFKO−/−) mice by homologous gene targeting. LFKO−/− mice are viable and fertile, develop normally, and display no overt abnormalities. A comparison of the iron status of suckling offspring from LFKO−/− intercrosses and from wild-type (WT) intercrosses showed that lactoferrin is not essential for iron delivery during the postnatal period. Further, analysis of adult mice on a basal or a high-iron diet revealed no differences in transferrin saturation or tissue iron stores between WT and LFKO−/− mice on either diet, although the serum iron levels were slightly elevated in LFKO-/- mice on the basal diet. Consistent with the relatively normal iron status, in situ hybridization analysis demonstrated that lactoferrin is not expressed in the postnatal or adult intestine. Collectively, these results support the conclusion that lactoferrin does not play a major role in the regulation of iron homeostasis.
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Tabrizi, S. J., and A. H. V. Schapira. "Secondary abnormalities of mitochondrial DNA associated with neurodegeneration." Biochemical Society Symposia 66 (September 1, 1999): 99–110. http://dx.doi.org/10.1042/bss0660099.
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The central nervous system has a particularly high energy requirement, thus making it very susceptible to defects in mitochondrial function. A number of neurodegenerative diseases, in particular Parkinson's disease (PD), Huntington's disease (HD) and Friedreich's ataxia (FRDA), are associated with mitochondrial dysfunction. The identification of a mitochondrial complex-I defect in PD provides a link between toxin models of the disease, and clues to the pathogenesis of idiopathic PD. We have undertaken genomic transplantation studies involving the transfer of mitochondrial DNA (mtDNA) from PD patients with a complex-I defect to a novel nuclear background. Histochemical, immunohistochemical and functional analysis of the resulting cybrids all showed a pattern in the PD clones indicative of a mtDNA mutation. There is good evidence for the involvement of defective energy metabolism and excitotoxicity in the aetiology of HD. We, and others, have shown a severe deficiency of complex II/III confined to the striatum that mimics the toxin-induced animal models of HD. There is also a milder defect in complex IV in the caudate. The tricarboxylic acid cycle enzyme aconitase is particularly sensitive to inhibition by peroxynitrite and superoxide radicals. We have found this enzyme to be severely decreased in HD caudate, putamen and cortex in a pattern that parallels the severity of neuronal loss seen. We propose a scheme for the role of nitric oxide, free radicals and excitotoxicity in the pathogenesis of HD. FRDA is caused by an expanded GAA repeat in intron 1 of the X25 gene encoding a protein called frataxin. Frataxin is widely expressed and is a mitochondrial protein, although its function is unknown. We have found abnormal magnetic resonance spectroscopy in the skeletal muscle of FRDA patients, which parallels our biochemical findings of reduced complexes I-III in patients' heart and skeletal muscle. There is also reduced aconitase activity in these areas. Increased iron deposition was seen in patients' tissues in a pattern consistent with a mitochondrial location. The mitochondrial iron accumulation, defective respiratory chain activity and aconitase dysfunction suggest that frataxin may be involved in mitochondrial iron regulation. There is also evidence that oxidative stress contributes to cellular toxicity.
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Perisano, Carlo, Emanuele Marzetti, Maria Silvia Spinelli, Cinzia Anna Maria Callà, Calogero Graci та Giulio Maccauro. "Physiopathology of Bone Modifications inβ-Thalassemia". Anemia 2012 (2012): 1–5. http://dx.doi.org/10.1155/2012/320737.
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β-thalassemia major (βTM) or Cooley anemia is characterized by significantly reduced or absent synthesis ofβ-globin chains, which induces important pathologic consequences including hemolytic anemia, altered erythropoiesis, and bone marrow overstimulation. The pathogenesis of bone changes in patients withβTM is not yet completely understood. However, an unbalance in bone mineral turnover resulting from increased resorption and suppression of osteoblast activity has been detected inβTM patients. The abnormal regulation of bone metabolism may be related to hormonal and genetic factors, iron overload and iron chelation therapy, nutritional deficits, and decreased levels of physical activity. Here, we review the most recent findings on the physiopathology of bone abnormalities inβTM. Clinical presentation and radiological features ofβTM-related bone changes are also discussed.
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Bazyka, D. A., K. M. Bruslova, L. O. Lyashenko, et al. "STRUCTURAL AND FUNCTIONAL BONE FEATURES IN CHILDREN RESIDING IN THE RADIOLOGICALLY CONTAMINATED TERRITORIES OF UKRAINE." Проблеми радіаційної медицини та радіобіології = Problems of Radiation Medicine and Radiobiology 29 (2024): 259–70. https://doi.org/10.33145/2304-8336-2024-29-259-270.
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Objective. Evaluation of structural features and metabolic/biochemical abnormalities of the bone tissue and relevant regulation patterns in children, residing in the radiologically contaminated territories (RCT). Materials and methods. Children (n = 148) aged 7 to 18 years old were involved in the study. Bone mineral density (BMD) is given in 3 grades according to the mean square deviation values, namely Grade I – standard (n = 75), Grade II – reduced (n = 45) and Grade III – very low one (n = 28). Cholelithiasis, urolithiasis, cancer and endocrine diseases, as well as bone fractures in the family members of children were taken into account. Bone fractures in the history and jaw anomalies were evaluated in study participants. A spectrum of blood biochemical parameters, namely the serum content of total protein, alkaline phosphatase (APh), serum iron (SI), creatinine, calcium, vitamin D, parathyroid hormone, calcitonin, pituitary thyroid stimulating hormone (TSH), free thyroxine (FT4), and cortisol both with urine content of amino acids were assayed. Radiation doses in study participants were calculated. Results. Abnormalities of the bone organic component were diagnosed according to the reduced serum level of creatinine, decreased urine levels of glycine and lysine, and increased urine content of oxyproline. A direct relationship was established between the urine level of oxyproline and serum TSH content (r = 0.42; p < 0.05). Abnormalities in the bone mineral component were accompanied by calcium deficiency, increased serum content of APh and decreased BMD. A direct relationship was established between the serum levels of calcium and APh (r = 0.33) and an inverse one between the APh serum content and BMD (r = -0.60) (р < 0.05). An inverse relationships were established between the serum vitamin D content and APh activity (r = -0.34), between the serum levels of vitamin D and SI (r = -0.35) (р < 0.05). Incidence and patterns of the abnormal parameters depending on BMD grades were established. Biochemical parameters reflecting the state of bone organic and mineral components both with the level of serum iron and hormonal regulation of bone formation were ranked. Individual radiation doses of children were (0.66 ± 0.04) mSv being not correlated with any other studied parameters. Conclusions. Evaluation of the structural and functional components of bone tissue sheds light on the mechanisms of bone formation processes, metabolism of biochemical cascade, and regulatory pathways aiming the timely correction of abnormalities. Key words: children, bone organic and mineral components, serum iron, thyroid system, cortisol, radiation doses.
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Kouroumalis, Elias, Ioannis Tsomidis, and Argyro Voumvouraki. "HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease." Biomedicines 13, no. 3 (2025): 683. https://doi.org/10.3390/biomedicines13030683.
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Iron overload can lead to increased deposition of iron and cause organ damage in the liver, the pancreas, the heart and the synovium. Iron overload disorders are due to either genetic or acquired abnormalities such as excess transfusions or chronic liver diseases. The most common genetic disease of iron deposition is classic hemochromatosis (HH) type 1, which is caused by mutations of HFE. Other rare forms of HH include type 2A with mutations at the gene hemojuvelin or type 2B with mutations in HAMP that encodes hepcidin. HH type 3, is caused by mutations of the gene that encodes transferrin receptor 2. Mutations of SLC40A1 which encodes ferroportin cause either HH type 4A or HH type 4B. In the present review, an overview of iron metabolism including absorption by enterocytes and regulation of iron by macrophages, liver sinusoidal endothelial cells (LSECs) and hepatocyte production of hepcidin is presented. Hereditary Hemochromatosis and the current pathogenetic model are analyzed. Finally, a new hypothesis based on published data was suggested. The Kupffer cell is the primary defect in HFE hemochromatosis (and possibly in types 2 and 3), while the hepcidin-relative deficiency, which is the common underlying abnormality in the three types of HH, is a secondary consequence.
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Mok, Henry, Miriam Mendoza, Josef T. Prchal, Peter Balogh, and Armin Schumacher. "Aberrant Ferroportin 1 Regulation and Iron Homeostasis Interferes with Development of the Spleen Stroma during Murine Embryogenesis." Blood 104, no. 11 (2004): 3192. http://dx.doi.org/10.1182/blood.v104.11.3192.3192.
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Abstract We have previously identified a regulatory mutation in the ferroportin 1 (Fpn1) locus in polycythaemia (Pcm) mutant mice, leading to transient iron overload and polycythemia during postnatal development. A 58-base pair deletion within the Fpn1 promoter region caused aberrant transcription initiation and resulted in the absence of the iron-responsive element in the 5′ untranslated region of the vast majority of Fpn1 transcripts, thereby disrupting translational regulation of Fpn1 expression. Interestingly, at birth Pcm mutant pups were remarkable for severe iron deficiency and a hypochromic, microcytic anemia. Here, we demonstrate that decreased placental syncytiotrophoblast expression of Fpn1 protein governs decreased embryonic iron levels during late gestation, implicating Fpn1 in maternal-to-fetal iron transport in the placenta. The decreased placental expression of Fpn1 protein appeared to be regulated at the transcriptional level. In striking contrast, increased Fpn1 protein was observed in the embryonic spleen during late gestation, mediated by a post-transcriptional mechanism. This correlated with a significant increase in apoptotic cell death of spleen stromal cells, culminating in a progressive regression of the spleen during late embryogenesis, more severe in Pcm homozygotes. Importantly, Pcm describes a phase in spleen development subsequent to that affected in mutant alleles of the transcription factors Wt1, Hox11, Bapx1, and capsulin. During postnatal development, whereas Pcm heterozygotes retain a significant amount of spleen tissue, Pcm homozygotes display only a spleen rudiment, and are likely to be functionally asplenic throughout postnatal life. Phenylhydrazine treatment of Pcm heterozygotes during early postnatal development demonstrated a reduced functional capacity for erythroid hyperplasia in the spleen. Despite the significantly reduced organ size, splenic white pulp follicles appear to form normally in both Pcm heterozygotes and homozygotes. However, severe abnormalities of the red pulp sinusoidal endothelial are observed in mutant spleens using markers specific for endothelial cell subpopulations. Therefore, the Pcm mutation represents a novel murine model for disrupted splenogenesis that is due to aberrant tissue-specific regulation of the iron transporter Fpn1 during embryonic development.
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De Sanctis, Vincenzo. "THE ICET-A RECOMMENDATIONS FOR THE DIAGNOSIS AND MANAGEMENT OF DISTURBANCES OF GLUCOSE HOMEOSTASIS IN THALASSEMIA MAJOR PATIENTS." Mediterranean Journal of Hematology and Infectious Diseases 8 (October 25, 2016): 2016058. http://dx.doi.org/10.4084/mjhid.2016.058.
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Iron overload in patients with thalassemia major (TM) affects glucose regulation, and is mediated by several mechanisms. These include the oxidative damage inflicted by iron on the pancreatic ß -cells and liver cells leading to pancreatic and hepatic dysfunction and insulin resistance. These disturbances have been identified by oral glucose tolerance test (OGTT), euglycemic insulin clamp, homeostatic model assessment (HOMA), intravenous glucose tolerance test (IVGT) and continuous glucose monitoring system (CGMS). A group of endocrinologists, hematologists and paediatricians, members of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence Medicine (ICET-A) convened to formulate recommendations for the diagnosis and management of abnormalities of glucose homeostasis in thalassemia major patients on the basis of available evidence from clinical and laboratory data and consensus practice. The results of their work and discussions are described in this article.Key words: Thalassemia major; Glucose homeostasis; Diagnosis; Management; Guidelines
Book chapters on the topic "Iron Regulation Abnormalities"
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Turner, Robert, and Andrew Neil. "Introduction to diabetes." In Insulin: Molecular Biology to Pathology. Oxford University PressOxford, 1992. http://dx.doi.org/10.1093/oso/9780199632299.003.0008.
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Abstract Diabetes is the name given to the clinical description of patients with a number of symptoms arising from raised glucose levels. The syndrome can occur from many specific ‘secondary causes’, including pancreatectomy, iron overload of the !3-cells resulting from haemochromatosis, excess cortisol production in Cushing’s syndrome, and excess growth hormone secretion in acromegaly and insulin-resistant syndromes, including insulin-receptor defects. The majority of patients do not, however, have any of these identified defects and are said to have ‘idiopathic’ diabetes. The metabolism of glucose involves many organs, in each of which several important metabolic steps occur. Key regulatory points include hepatic regulation of glucose uptake and release, muscle utilization of fuels, control by pancreatic production of insulin and glucagon, and neurogenic controls. Diabetes may arise from abnormalities at one or several sites in the complex feedback loops in this system. Two main types of diabetes can be distinguished. Different nomenclatures for these types have arisen because overlap between the types makes a strict, simple classification covering all patients impossible.