Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 7 of 7 for “"mtDNA deletions"”.
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Effects of Resistance Training on aged Skeletal Muscle and Mitochondrial Function
… oxygen species (ROS), and mitochondrial DNA (MtDNA) deletions and mutations. Muscle mass declines at a rate of 1-2% each year after the age of 50, leading to muscle weakness, functional impairments, loss of independence, and an increase in falls. Additional declines in muscle mass and reduced …
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DIRECT REPEATS AND DELETIONS IN MITOCHONDRIAL DNA: CASUAL AND EVOLUTIONARY ASPECTS
… and DNA misalignments in mitochondrial DNA (mtDNA) deletion mutagenesis. Meta-analysis of age-related deletion breakpoints indicated that in human and rhesus monkey but not in mouse and rat, the average distance observed between a mtDNA breakpoint and its nearest direct repeat (DR) motif was …
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IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI.
… with enlargement of the IMS; 4) defective mtDNA maintenance, with accelerated time-dependent accumulation of multiple mtDNA deletions. Moreover, the Saccharomyces cerevisiae erv1R182H mutant strain reproduced the Complex IV activity defect and showed genetic instability of mtDNA and …
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Mitochondrial Dysfunction and Stress Responses in CHCHD10 Myopathy and Neurodegeneration
… depth sequencing of mitochondrial DNA (mtDNA) of CHCHD10 mutant mice and show that mtDNA deletion levels are higher in affected tissue, and the accumulation of these deletions happens in an age-dependent manner. I finally show that in addition to accelerating the rate of naturally …
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Defining the cellular and molecular mechanism of maternally inherited hearing loss
… disease. The m.1555A>G mitochondrial DNA (mtDNA) variant is associated with a predisposition to aminoglycoside ototoxicity and maternally inherited non-syndromic deafness. However, the reasons for the highly variable penetrance of the associated hearing loss have not yet been fully …
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Mechanisms Controlling the Segregation of Mitochondrial DNA Heteroplasmy
Mutations of the mitochondrial DNA (mtDNA) are often the cause behind primary mitochondrial disorders affecting 1:5000 individuals. However, the full extent of the impact that mtDNA mutations have is yet to be comprehensively understood. One of the main reasons behind our slow progress in the …
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Genotype and phenotype in mitochondrial disorders
… by pathogenic variants in the mitochondrial DNA (mtDNA), which is solely maternally inherited, or by pathogenic variants in more than 300 nuclear genes and can follow any inheritance pattern. mtDNA variants can be homoplasmic (present in all copies of the mtDNA) or heteroplasmic (present in a …