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Dissertations / Theses on the topic 'Mitochondrial diseases'

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Published: 4 June 2021
Last updated: 25 July 2025

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1

Gu, Mei. "Mitochondrial function in Parkinson's disease and other neurodegenerative diseases." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322371.

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2

Wredenberg, Anna. "Mitochondrial dysfunction in ageing and degenerative disease /." Stockholm : Karolinska institutet, 2007. http://diss.kib.ki.se/2007/978-91-7357-311-5/.

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3

Addo, Mathew Glover. "Identification of new nuclear genes involved in the mitochondrial genome maintenance." Thesis, Paris 11, 2011. http://www.theses.fr/2011PA112065.

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Sous le terme de maladies mitochondriales, on désigne des maladies multi-systémiques ou à expression tissu-spécifique dues à un déficit de la phosphorylation oxydative qui est assurée par le fonctionnement de 5 complexes protéiques enzymatiques (chaîne respiratoire) parmi lesquelles 13 sous-unités sont codées par le génome mitochondrial, les autres par le génome nucléaire. Ces pathologies recouvrent donc en pratique des maladies génétiques par mutation de l’ADN mitochondrial (ADNmt) mais aussi des maladies génétiques à hérédité mendélienne classique. Dans les cytopathies mitochondriales liées
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4

CIVILETTO, GABRIELE. "Opa1 overexpression as potential therapy in mitochondrial diseases." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/55460.

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Mitochondrial disorders are a group of highly invalidating human conditions due to defective oxidative phosphorylation, for which no effective treatment is nowadays available. In order to develop effective therapies for these disorders, I focused on an experimental approach based on the manipulation of mitochondrial morphology. Opa1 is a GTPase of the inner mitochondrial membrane involved in both mitochondrial fusion and cristae shaping. The role of OPA1 in mitodynamics has also a documented impact on controlling the assembly of the respiratory supercomplexes and respiratory proficiency. Base
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5

Ekstrand, Mats. "Mitochondrial dysfunction in neurodegeneration /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-204-7/.

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6

Aryamvally, Anjali. "Mitochondrial Replacement Therapy: Genetic Counselors’ Experiences, Knowledge and Opinions." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1583998248123854.

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7

Granatiero, Veronica. "The role of calcium homeostasis in mitochondrial diseases and neurodegeneration." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3423748.

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Ca2+ is one of the main second messengers of cells and, in particular the Ca2+ signaling in mitochondria is involved in different physiological processes spanning from cell metabolism, through the control of mitochondrial respiration and crucial metabolic enzymes, to the response in stress conditions. Despite the lack of a mechanistic understanding, it is well known that mitochondrial Ca2+ overload is the most important trigger for the opening of permeability transition pore responsible for apoptosis induction after several toxic challenges. On the contrary, the role of Ca2+ signaling in aut
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8

Aachi, Venkat Raghav. "Preliminary Characterization of Mitochondrial ATP-sensitive Potassium Channel (MitoKATP) Activity in Mouse Heart Mitochondria." PDXScholar, 2009. https://pdxscholar.library.pdx.edu/open_access_etds/1667.

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Myocardial ischemia, infarction, heart failure and arrhythmias are the manifestations of coronary artery disease. Reduction of ischemic damage is a major concern of cardiovascular biology research. As per recent studies, the mitochondrial ATP-sensitive potassium channel (mitoKATP) opening is believed to play key role in the physiology of cardioprotection, protection against ischemia-reperfusion injury or apoptosis. However, the structural information of mitoKATP is not precisely known. Elucidating the structural integrity and functioning of the mitoKATP is therefore a major goal of cardiovascu
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9

Liang, Christina Luh-Unn. "The Australian Mitochondrial Disease Study – Recognising and improving the diagnosis and management outcomes of adult patients with mitochondrial diseases." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/16723.

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Background: Mitochondrial diseases are one of the most common hereditary neuromuscular conditions. Late-onset presentations are common. Genotype-phenotype correlations are poor, making the diagnosis difficult and prognostication imprecise. Objectives: We aim to refine the diagnostic pathway for adult patients suspected to have a mitochondrial disease, to better understand their clinical presentations, and to review their management strategies. Methods: At the Neurogenetics Clinic, we saw over 270 patients with suspected mitochondrial disease, of whom 148 patients had “probable” or “definite” d
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10

Franco, Iborra Sandra. "Mitochondrial quality control in neurodegenerative diseases: focus on Parkinson’s disease and Huntington’s disease." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/565668.

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Darrerament s’han produït avanços importants que han contribuït al coneixement dels mecanismes de disfunció cel·lular i mort en la malaltia de Parkinson (MP) i en la malaltia de Huntington (MH). Ambdues malalties són trastorns del moviment que es caracteritzen per la pèrdua específica de neurones dels ganglis basals, les neurones dopaminèrgiques de la substància nigra (SN), en el cas de la MP i les neurones espinoses de l’estriat, en el cas de la MH. Malgrat les diferències, ambdues comparteixen processos patològics comuns com la presència de proteïnes malplegades, l’estrés oxidatiu i disfunci
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11

BOTTANI, EMANUELA. "Mitochondrial diseases: from gene function to therapy." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/94380.

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Le malattie mitocondriali sono disturbi genetici caratterizzati da difetti di fosforilazione ossidativa causati da mutazioni nel DNA mitocondriale, o in geni nucleari i cui prodotti sono legati alla fosforilazione ossidativa o alla biologia mitocondriale. La prima parte del progetto è stata focalizzata sulla generazione e la caratterizzazione di un modello murino di malattia mitocondriale, Ttc19ko. I pazienti con mutazioni in TTC19 sviluppano danni neurologici e deficit di complesso III. Ttc19 è una proteina mitocondriale che sembra essere coinvolta nell’assemblaggio e/o stabilità del compless
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12

Hidaka, Takuya. "Development of Sequence-Specific DNA Binders for the Therapy of Mitochondrial Diseases." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263495.

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13

Annunen-Rasila, J. (Johanna). "Molecular and cell phenotype changes in mitochondrial diseases." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514284427.

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Abstract The mitochondrial oxidative phosphorylation system (OXPHOS) generates energy but also deleterious reactive oxygen species (ROS). Changes in the cytoskeleton, composed mainly of microfilaments, microtubules and intermediate filaments, have been observed in OXPHOS deficiency. The 3243A>G point mutation in mitochondrial DNA (mtDNA) leads to mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), which is the most common mitochondrial disease. Interestingly, mitochondrial aberrations have been demonstrated in patients with a mutation in NOTCH3, the genetic cause
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14

Agip, Ahmed-Noor. "Developing mouse complex I as a model system : structure, function and implications in mitochondrial diseases." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/283201.

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Complex I (NADH:ubiquinone oxidoreductase), located in the mitochondrial inner membrane, is a major electron entry point to the respiratory chain. It couples the energy released from electron transfer (from NADH to ubiquinone) to the concomitant pumping of protons across the membrane, to generate an electrochemical proton motive force. Mammalian complex I is composed of 45 subunits, 14 of which comprise its simpler bacterial homologues. It is encoded by both the mitochondrial and nuclear genomes, and pathological mutations in both sets of subunits result in severe neuromuscular disorders such
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15

Hou, Xiang-Yu. "Exercise performance and mitochondrial function in peripheral arterial disease." Thesis, Queensland University of Technology, 2002. https://eprints.qut.edu.au/36778/1/36778_Digitised%20Thesis.pdf.

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Peripheral arterial disease (PAD) is an atherosclerotic disease in the peripheral arteries, which reduces blood supply to the lower extremities. Intermittent claudication is the symptom that develops early in PAD patients and is accompanied by the haemodynamic finding of a fall in systolic blood pressure at the ankles following exercise. In PAD patients, exercise performance is not well correlated with haemodynamic measurements and other mechanisms have been suggested to account for the impairment. There have been reports about the impaired mitochondrial metabolism (eg, decreased activities of
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16

Mitchell, A. L. R. "The mitochondrial response to nutrient availability in cancer cells and cellular models of mitochondrial diseases." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10044398/.

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Mitochondria are central to cellular metabolism; therefore, changes in nutrient availability are expected to impact the organelle’s function. To assess the interdependence of mitochondria and nutrients, two models were investigated: rapidly proliferating cells, and fibroblasts derived from patients with mitochondrial disorders. In Human Embryonic Kidney (HEK) cells, amino acid withdrawal increases mitochondrial function (Johnson et al., 2014). Investigation of two unrelated cell lines, A549 and HeLa cells, revealed perturbed regulation of cytosolic translation, and reduced mitochondrial functi
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17

Corrà, Samantha. "Modeling human mitochondrial diseases related to MPV17 and APOPT1 in Drosophila melanogaster." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3426309.

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Mitochondrial diseases are a clinically heterogeneous group of inherited disorders associated with defects in the oxidative phosphorylation system, with an estimated incidence in between 1:5,000 and 1:10,000 live births. Mitochondrial respiratory chain function depends on the coordinated expression of both mitochondrial and nuclear genomes. Thus, also mutations affecting nuclear-encoded mitochondrial proteins are responsible for mitochondrial disease onset. During the last decades, an increasing number of novel nuclear disease genes have been identified. Among those genes, human MPV17 and APOP
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18

Da, Re C. "Drosophila melanogaster as a model to study mitochondrial diseases." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3427472.

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Human mitochondrial diseases known as mitochondrial encephalomyopathies affecting the oxidative phosphorylation (OXPHOS) system can result from a large number of different mutations, both in the nuclear genome or in the maternally inherited mitochondrial DNA (mtDNA). The manifestations of mitochondrial diseases are extremely diverse, including numerous symptoms of variable severity, affecting tissues highly dependent on mitochondrial energy, such as brain, muscle, heart, and the sensorineural epithelia. Moreover these disorders can appear early in life, in children or in young adults (Wallace
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19

Bris, Céline. "Influence de la génétique mitochondriale en pathologie : apport des techniques de séquençage haut débit Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia." Thesis, Angers, 2017. http://www.theses.fr/2017ANGE0093.

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Les maladies mitochondriales sont des pathologies fréquentes du métabolisme caractérisées par une forte hétérogénéité clinique et génétique, notamment par la dépendance à 2 génomes, nucléaire (ADNn) et mitochondrial (ADNmt), et le concept d’hétéroplasmie (HT). L’objectif de ce travail de thèse a été de développer une stratégie d’analyse de l’ADNmt par séquençage haut-débit (NGS), puis de l’appliquer à l’étude des maladies mitochondriales et des pathologies liées au vieillissement : glaucome à angle ouvert (GPAO) et vieillissement ovarien précoce. Après validation des performances de notre stra
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20

Hansson, Anna. "Cellular responses to respiratory chain dysfunction /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-493-7/.

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21

Aretz, Ina [Verfasser]. "Proteome and metabolome changes associated with mitochondrial diseases / Ina Aretz." Berlin : Freie Universität Berlin, 2016. http://d-nb.info/1108307728/34.

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22

Oerum, Stephanie. "Characterisation of the mitochondrial RNase P complex and associated diseases." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:c3a7badf-1ec6-4103-b973-b79e81ebcba8.

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Human mitochondrial RNase P protein 1 (MRPP1) and 2 (MRPP2) form a methyltransferase complex with N1-methylation activity towards purine-9 on mitochondrial tRNA. A third component, mitochondrial RNase P protein 3 (MRPP3), adds RNase P 5'-end ribonuclease processing activity to the complex. MRPP2 alone is a dehydrogenase reductase (SDR) involved in many reactions e.g. steroid metabolism and isoleucine β-oxidation. Inherited MRPP2 missense mutations cause the rare neurological HSD10 disease, where, due to the multifunctional nature of MRPP2, no clear genotype-phenotype relationship has been est
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23

Duffy, L. "Investigation of changes in mitochondrial dynamics in motor neuron diseases." Thesis, University of Sheffield, 2013. http://etheses.whiterose.ac.uk/4286/.

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Changes in mitochondrial dynamics, including alterations in the fusion/fission balance, have repeatedly been observed in ageing and neurodegenerative disease, including ALS. We investigated the effect of ageing or disease on mitochondrial network complexity in primary dermal fibroblasts, derived from ALS patients or controls. Increased network complexity during ageing was observed in the control cohort, though motility was unaffected. Conversely, network complexity decreased in the sporadic ALS patient cohort upon ageing. We speculate that this alteration in mitochondrial dynamics may contribu
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24

Su, Xin. "Yeast models of diseases linked to the mitochondrial ATP6 gene : molecular bases and therapeutic prospects." Thesis, Bordeaux, 2020. http://www.theses.fr/2020BORD0216.

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Par définition, les maladies mitochondriales résultent d’un défaut dans le processus des oxydations phosphorylantes (OXPHOS). Celui-ci permet aux cellules de se fournir en ATP, soit la principale source d’énergie qu’elles peuvent utiliser. Dans ce processus, quatre complexes (I-IV) insérés dans la membrane mitochondriale interne transfèrent à l’oxygène moléculaire les équivalents réducteurs libérés par l’oxydation de carbohydrates et d’acides gras. Cette activité génère une force proton motrice utilisée pour la synthèse d’ATP à partir d’ADP et de phosphate inorganique par le complexe V ou ATP
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25

Fukui, Hirokazu. "Mitochondrial Involvement in the Accumulation of Misfolded Proteins in Neurodegenerative Diseases." Scholarly Repository, 2008. http://scholarlyrepository.miami.edu/oa_dissertations/41.

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Mitochondrial respiratory chain deficiency and increased oxidative stress have been closely associated with major age-associated neurodegenerative diseases. I hypothesized that mitochondrial oxidative phosphorylation defects or elevated oxidative stress, which could arise in a stochastic manner during our normal aging process, might modulate the formation of protein aggregates or production of misfolded proteins, contributing to the initiation of these diseases. To test this hypothesis, we (i) have developed and characterized mouse and cellular models of Alzheimer's and Huntington's diseases
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26

Kabala, Anna Magdalena. "Biogenesis of mitochondrial ATP synthase and its dysfunction leading to diseases." Thesis, Bordeaux, 2014. http://www.theses.fr/2014BORD0366/document.

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La F1FO-ATP synthase mitochondriale produit la majorité de l’énergie cellulaire chezles eucaryotes aérobes sous forme d’ATP par le processus des oxydations phosphorylantes.Chez la plupart des espèces, cette enzyme possède une origine génétique double, nucléaire etmitochondriale. Dans la première partie de ce travail, je décris la construction de modèles delevure de mutations du gène mitochondrial ATP6 de l’ATP synthase découvertes chez despatients atteints de maladies neurologiques (9185T>C and 9191T>C) ou dans des tumeurs(8716A>G, 8914C>A, 8932C>T, 8953A>G and 9131T>C). L
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27

Peruzzo, Roberta. "Modulation of mitochondrial energy balance in health and disease." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3424838.

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Mitochondria are highly dynamic organelles and their function is crucial for the maintenance of cellular homeostasis. Alterations in mitochondrial homeostasis has emerged as a hallmark of several diseases, like cancer and genetic disorders. Mitochondrial fitness and its energetic state can impact cell viability and proliferation, and its modulation via pharmacological tools can be used to treat several mitochondria-related diseases. The potassium channel Kv1.3 is a voltage-gated potassium channel emerged as a novel oncological target. It is overexpressed in several tissues compared to normal
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28

Oglesbee, Devin. "Improving the diagnosis of mitochondrial diseases : application of monoclonal antibody technologies to NADH:ubiquinone oxidoreductase and cytochrome c oxidase defects /." view abstract or download file of text, 2004. http://wwwlib.umi.com/cr/uoregon/fullcit?p3136436.

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Thesis (Ph. D.)--University of Oregon, 2004.<br>Typescript. Includes vita and abstract. Includes bibliographical references (leaves 113-119). Also available for download via the World Wide Web; free to University of Oregon users.
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29

Rocha, Mariana Frota Cúcio De Moraes. "A novel assay to measure mitochondrial dysfunction in human skeletal muscle : implications for the diagnosis and treatment of mitochondrial diseases." Thesis, University of Newcastle upon Tyne, 2016. http://hdl.handle.net/10443/3255.

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Mitochondrial dysfunction occurs in patients with mitochondrial disease, in neurodegenerative conditions and as part of the ageing process. It affects predominantly tissues with high metabolic requirements such as central nervous system and skeletal muscle. In patients with mitochondrial disease, both mitochondrial and nuclear genetic defects commonly cause a biochemical defect in muscle. However, due to the multi-copy nature of mitochondrial DNA, muscle displays a mosaic pattern of deficiency when the mitochondrial genome is affected. This particular pattern makes these defects challenging to
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30

George, Siddiqah. "A critical analysis of mitochondrial functioning and associated proteins in obesity-related cardiomyopathy." Thesis, Stellenbosch : Stellenbosch University, 2013. http://hdl.handle.net/10019.1/80377.

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Thesis (MScMedSc)--Stellenbosch University, 2013.<br>ENGLISH ABSTRACT: INTRODUCTION: The mechanism behind obesity-related cardiomyopathies is at present not completely known, however, cardiac insulin resistance has been implicated as one of the main arbitrators of obesity-related cardiovascular disease. A few studies have associated perturbations in the insulin-mediated PI3K/PKB/Akt pathway in mediating this insulin resistance. Moreover, this pathway has been shown to regulate myocardial apoptosis, which in turn has been implicated in a number of cardiovascular diseases. Currently, few studies
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31

MELCHIONDA, LAURA. "New genes involved in mitochondrial and neurodegenerative diseases identified by whole exome sequencing." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/50025.

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The scope of my thesis was the identification of genes responsible for: 1) an adult-onset neurological syndrome, with leukodystrophy and motor-neuron disease, in two half-siblings; 2) an infantile hypertrophic cardiomyopathy with lactic acidosis and mitochondrial respiratory chain defects. Since all genetic screenings performed on the basis of clinical manifestations did not provide a diagnosis for these patients, we carried out whole exome sequencing. My work contributed to the publications of three papers. In the second chapter of this thesis, there is the article concerning the identif
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32

La, Cock Charles J. R. "Mitochondrial DNA heteroplasmy in radiation induced myelodysplasia and leukaemia." Thesis, Cape Technikon, 1996. http://hdl.handle.net/20.500.11838/2251.

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Thesis (MTech (Medical Technology))--Cape Technikon, 1996.<br>Haematological defects observed in clonal deletions of mtDNA and the inhibition of mitochondrial function by benzene and chloramphenicol, suggest a role for mtDNA in the pathogenesis of radiation - induced preleukaemia (MDS). The fact that leukaemia cells contain abnormal mitochondria and abnormally structured mtDNA, makes it reasonable to assume mtDNA mutations could be central to the pathogenesis of both MDS and leukaemia. It was decided to examine MDS patients for the presence of mtDNA length mutations (dimers and cocanta
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33

Trevisson, Eva. "Genetic bases and experimental models for the study of inherited metabolic diseases." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425008.

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Inherited metabolic diseases are genetic disorders caused by the alteration of a specific metabolic reaction. We focused on the study of the genetic bases of two main types of metabolic disorders, mitochondrial diseases and urea cycle defects. In this work, we report the characterization of novel genes that are potentially involved in mitochondrial respiratory chain defects: we identified three novel COX-assembly genes required for Cytochrome c Oxidase (COX) biogenesis and two novel genes involved in coenzyme Q biosynthesis.These genes represent new candidates to be screened in patients with i
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34

Berg, Alonso Laetitia. "Déficits de la chaîne respiratoire mitochondriale avec instabilité de l’ADN mitochondrial : identification de nouveaux gènes et mécanismes." Thesis, Université Côte d'Azur (ComUE), 2016. http://www.theses.fr/2016AZUR4101/document.

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Les maladies mitochondriales regroupent un ensemble de pathologies liées à un déficit de la chaînerespiratoire mitochondriale. Au laboratoire, nous focalisons notre intérêt sur les mitochondriopathies liées à undéfaut de stabilité de l’ADN mitochondrial (ADNmt), qui se traduit par des délétions multiples et/ou unedéplétion (diminution du nombre de copies). Ces pathologies sont caractérisées par une importantehétérogénéité clinique et génétique et sont secondaires à des mutations dans des gènes nucléaires codantpour des protéines impliquées dans le maintien de l’ADNmt. De nos jours, la recherch
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35

D'Urso, Baptiste. "Fonctions mitochondriales de la protéine Optineurine : neurodégénérescence et cancer." Electronic Thesis or Diss., Sorbonne université, 2025. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2025SORUS071.pdf.

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Optineurine (OPTN) est une protéine multifonctionnelle et l’un des adaptateurs clés de la mitophagie, avec NDP52. Comme cette dernière, OPTN assure, de manière préférentielle, la gestion mitochondriale au sein du système nerveux central et périphérique. Une diminution de l’expression et/ou une mutation d’Optineurine, ainsi que des marqueurs de la mitophagie Pink1, TBK1, et l’E3 ubiquitine ligase Parkin, ont été rapportées dans différentes maladies neurodégénératives (glaucome, maladie d’Alzheimer, maladie de Parkinson, sclérose latérale amyotrophique, démence fronto-temporale) et dans des canc
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36

Загородній, Микола Петрович, Николай Петрович Загородний, Mykola Petrovych Zahorodnii та О. В. Дудкіна. "Мітохондріальні хвороби". Thesis, Вид-во СумДУ, 2010. http://essuir.sumdu.edu.ua/handle/123456789/5893.

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Існує безліч нозологічних одиниць спадкових хвороб, які повністю ще не ідентифіковані. Вони маскуються під відомі хвороби, їх лікують, як відомі хвороби, але ефект не настає. Такими захворюваннями донедавна були мітохондріальні хвороби. У 1981 році в лабораторії Медичного дослідницького центру у Кембриджі науковою групою Сенгера Ф. була розшифрована нуклеотидна структура ДНК мітохондрій (мтДНК) людини, пізніше названою хромосомою 25 або М-хромосомою. При цитуванні документа, використовуйте посилання http://essuir.sumdu.edu.ua/handle/123456789/5893
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37

La, Cock Charles JR. "Mitochondrial DNA heteroplasmy in radiation induced myelodysplasia and leukaemia." Thesis, Cape Technikon, 1996. http://hdl.handle.net/20.500.11838/1493.

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Thesis (MTech(Medical Technology))--Cape Technikon, Cape Town, 1996<br>Haematol.ogical defects observed in cl.onal deletions of mtDNA and the inhibition of mitochondrial function by benzene and chloramphenicol., suggest a role for mtDNA in the pathogenesis of radiation - induced preleukaemia (MDS). The fact that leukaemia cell.s contain abnormal mitochondria and abnormally structured mtDNA, makes it reasonable to assume mtDNA mutations could be central to the pathogenesis of both MDS and l.eukaemia. It was decided to examine MDS patients for the presence of mtDNA length mutatio
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38

Worgan, Lisa Catherine Women &amp Children's Health UNSW. "The role of nuclear-encoded subunit genes in mitochondrial complex 1 deficiency." Awarded by:University of New South Wales. Women and Children's Health, 2005. http://handle.unsw.edu.au/1959.4/22307.

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BACKGROUND: Mitochondrial complex I deficiency often leads to a devastating neurodegenerative disorder of childhood. In most cases, the underlying genetic defect is unknown. Recessive nuclear gene mutations, rather than mitochondrial DNA mutations, account for the majority of cases. AIM: Our aim was to identify the genetic basis of complex I deficiency in 34 patients with isolated complex I deficiency, by studying six of the 39 nuclear encoded complex I subunit genes (NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS7 and NDUFS8). These genes have been conserved throughout evolution and carry out essentia
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39

Cherubini, Marta. "Study of mitochondrial dysfunction mechanisms in Huntington's disease striatal degeneration." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/398895.

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Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder, characterized by progressive behavioral, motor and cognitive deficits (HDCRG, 1993; Ross & Margolis, 2001). The predominant neuropathological hallmark of HD is the selective loss of medium spiny neurons within the striatum that extends to other brain regions with the progression of the disease (Martin & Gusella, 1986). Although mutant huntingtin (mHtt) represents a key factor in the pathogenesis of the disease, the molecular mechanisms underlying the preferential vulnerability of the striatum to mHtt toxic
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40

De, Jager Laura-Ellen. "Characterization of the mitochondrial genomes of Diuraphis noxia biotypes." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/96007.

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Thesis (MSc)--Stellenbosch University, 2014.<br>ENGLISH ABSTRACT: Diuraphis noxia (Kurdjumov, Hemiptera, Aphididae) commonly known as the Russian wheat aphid (RWA), is a small phloem-feeding pest of wheat (Triticum aestivum L). Virulent D. noxia biotypes that are able to feed on previously resistant wheat cultivars continue to develop and therefor the identification of factors contributing to virulence is vital. Since energy metabolism plays a key role in the survival of organisms, genes and processes involved in the production and regulation of energy may be key contributors to virulence: suc
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ARDISSONE, ANNA. "Mitochondrial diseases related to mtDNA in childhood: genotype-phenotype correlation and characterization of novel phenotypes." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2020. http://hdl.handle.net/10281/262917.

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Le malattie mitocondriali (MD) sono un gruppo clinicamente eterogeneo di patologie dovute al difetto di funzione dei mitocondri, in particolare della catena respiratoria mitocondriale (RC) e della fosforilazione ossidativa (OXPHOS). Le funzioni mitocondriali sono sotto il controllo di due diversi genomi: DNA mitocondriale (mtDNA) e genoma nucleare (nDNA). Le forme infantili sono più spesso associate a mutazioni nel nDNA; negli ultimi anni tecnologie di sequenziamento di nuova generazione (Next Generation Sequencing-NGS) hanno permesso di identificare nuovi geni malattia; in collaborazione co
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Hameren, Gerben van. "Mitochondrial physiology within myelinated axons in health and disease : an energetic interplay between counterparts." Thesis, Montpellier, 2018. http://www.theses.fr/2018MONTT084/document.

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Le système nerveux consiste en plusieurs types cellulaires quels interagissent avec eux-mêmes pour conduire des potentiels d’action du soma au travers l’axone vers la synapse. Dans les nerfs périphériques, les cellules de Schwann interagissent avec les neurones par enrouler autour l’axone et créer une gaine de myéline. Cette gaine de myéline permit une conduction rapide des potentiels d’action de nœud de Ranvier vers nœud de Ranvier, quels sont petits régions non-myélinisés de l’axone. En plus, les cellules de Schwann transportent du lactate vers le neurone et le neurone utilise ce lactate pou
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Dovydenko, Ilya. "Mise au point d'aptamères aux capacités thérapeutiques basés sur les ARN importables dans les mitochondries humaines." Thesis, Strasbourg, 2015. http://www.theses.fr/2015STRAJ046/document.

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Les défauts de génome mitochondrial provoquent des maladies neuromusculaires, pour lequel aucun traitement efficace n'a été mis au point. La plupart des mutations mitochondriales sont hétéroplasmique, ce qui signifie que l'ADN mitochondrial (ADNmt) de type sauvage et muté coexistent dans la même cellule, et le changement de proportion entre deux types d'ADNmt pourrait rétablir les fonctions mitochondriales. Le but du projet était le développement du système pour cibler l'ARN thérapeutique dans les cellules humaines vivantes. Au cours de ma thèse j'ai synthétisé une série de nouveaux ARN anti-r
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44

Silva, José Pablo. "The pathophysiology of respiratory chain dysfunction /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-234-9/.

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45

Berg, Alonso Laetitia. "Déficits de la chaîne respiratoire mitochondriale avec instabilité de l’ADN mitochondrial : identification de nouveaux gènes et mécanismes." Electronic Thesis or Diss., Université Côte d'Azur (ComUE), 2016. http://www.theses.fr/2016AZUR4101.

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Les maladies mitochondriales regroupent un ensemble de pathologies liées à un déficit de la chaînerespiratoire mitochondriale. Au laboratoire, nous focalisons notre intérêt sur les mitochondriopathies liées à undéfaut de stabilité de l’ADN mitochondrial (ADNmt), qui se traduit par des délétions multiples et/ou unedéplétion (diminution du nombre de copies). Ces pathologies sont caractérisées par une importantehétérogénéité clinique et génétique et sont secondaires à des mutations dans des gènes nucléaires codantpour des protéines impliquées dans le maintien de l’ADNmt. De nos jours, la recherch
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Catalán, García Marc. "Mitochondrial profile and amyloidogenic molecules in sporadic inclusion body myositis." Doctoral thesis, Universitat de Barcelona, 2017. http://hdl.handle.net/10803/586382.

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Sporadic inclusion body myositis (sIBM) is the most common myopathy in elderly. This disease causes muscle wasting with both distal and proximal affectation. Quadriceps and finger flexors are muscle typically affected. At pathological level, three different features are present in muscle biopsies: inflammation, mitochondrial abnormalities and degeneration. The presence of T-cell infiltrate, ragged-red fibers and rimmed vacuoles are some features linked to these pathological processes. Protein misfolding and aggregation lead to the formation of the mentioned rimmed vacuoles, composed by many di
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Ong, Kai Li. "SNFing Glucose to PASs Mitochondrial Dysfunction: The Role of Two Sensory Protein Kinases in Metabolic Diseases." BYU ScholarsArchive, 2019. https://scholarsarchive.byu.edu/etd/8587.

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Mitochondria is no longer viewed as merely a powerhouse of the cell. It is now apparentthat mitochondria play a central role in signaling, maintaining cellular homeostasis and cell fate.Mitochondrial dysfunction has been linked to many human diseases caused by cellular metabolicderegulation, such as obesity, diabetes, neurodegenerative disease, cardiovascular disease andcancer. Eukaryotic organisms have evolved an efficient way in sensing, communicating andresponding to cellular stress and regulating mitochondrial activity correspondingly through acomplex network of intercommunicating protein
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Navarro, González María del Carmen. "Caenorhabditis elegans as a research tool to study mitochondrial diseases associated with defects in tRNA modification." Doctoral thesis, Universitat Politècnica de València, 2016. http://hdl.handle.net/10251/61978.

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[EN] Post-transcriptional modification of the wobble uridine (U34) of a tRNA set is an evolutionary conserved process, produced by homologous proteins from the MnmA/MTU1, MnmE/GTPBP3 and MnmG/MTO1 families. Mutations in the human genes MTU1 and GTPBP3 or MTO1 produce acute infantile liver failure, and hypertrophic cardiomyopathy and lactic acidosis, respectively, which usually cause lethality in the first months of life. It is assumed that the primary cause of these diseases is the lack of the modifications introduced by the MTU1 protein in position 2 (tiol) and GTPBP3 and MTO1 proteins (tauri
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García, Cazorla Àngels. "Mitochondrial disorders in childhood: from general characteristics to new aspects." Doctoral thesis, Universitat Autònoma de Barcelona, 2005. http://hdl.handle.net/10803/4631.

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Las enfermedades mitocondriales pueden ser englobadas dentro de las enfermedades raras de la edad pediátrica. Esta tesis recoge aspectos clínicos, bioquímicos y genéticos de 241 pacientes con enfermedades mitocondriales diagnosticados en el hospital "Necker-Enfants Malades, Paris", en el período comprendido entre los años 1977 al 2002.. Este amplio espectro de información incluye características generales como son la descripción de las formas de presentación clínicas y procedimientos diagnósticos, pero también recoge aspectos poco conocidos como son los estudios clínicos de seguimiento a larg
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Harland, Micah Thomas. "Neuronal Mitofusin 2 Modulates Neuroinflammation in Acute Systemic Inflammation and Alleviates Pathologies in a Mouse Model for Neurodegenerative Diseases." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case1586468876190716.

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