mtDNA Mutations
Absence of mtDNA mutations in leukocytes of CADASIL patients
... pathogenic mtDNA sequence changes. One study has shown a higher number of mtDNA-polymorphisms among CADASIL patients in comparison to healthy controls and detected three patho- genic mtDNA ...
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Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations
... simulate mtDNA mutations under neutrality as a ...the mtDNA mutations in tumors were derived under neutrality, and selection plays a negligible role in shaping the overall mutation ...the ...
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Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number
... the mtDNA genome of zebrafish and humans and the high evolutionary conservation of the mtDNA bottleneck in animal species (Wolff et ...in mtDNA copy number in human oocytes (Otten and Smeets 2015), ...
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Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice
... of mtDNA copy number, increased expression of PGC-1α and its downstream metabolic network, enhanced mito- chondrial oxidative capacity, and restoration of mito- chondrial structural integrity in PolG-END ...
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Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
... LHON mutations are associated with disease, then homoplas- mic LHON mutations overlap with MS in approxi- mately 1 in 400,000 of the UK ...common mtDNA mutations and a rela- tively common ...
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Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
... 5 showed a hierarchical segregation pattern as observed in many pathogenic mtDNA mutations. Screening of maternal samples was undertaken for patients 2, 4, and 5, with maternal inheritance being confirmed ...
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Type 2 diabetes increases oocyte mtDNA mutations which are eliminated in the offspring by bottleneck effect
... mitochondrial mtDNA mutations is not ...increased mtDNA mutation sites and mutation ...of mtDNA mutations [13, 14], eliminated mtDNA muta- tions in T2D-F1 ...
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Mitochondrial diseases caused by mtDNA mutations: a mini-review
... the mtDNA mutations associated with mitochondrial cytopathies lead to damage in the protein subunits of mitochondrial respiratory chain enzymes or transport RNA defects (Table ...
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Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration
... multiple mtDNA deletions [9], There are also some patients with pathogenic mtDNA mutations suffering from dementia and cognitive impairment ...[10]. MtDNA polymorphisms and certain haplogroups ...
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Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas
... of mtDNA mutations in neuro- degenerative disorders have been inconsistent is that they may be acquired in the course of the disease as a consequence of a prior specific ...of mtDNA (52), resulting ...
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Mitochondrial DNA as a potential tool for early cancer detection
... of mtDNA mutations associated with breast tumour tissue varies in each report, there is compelling evidence that somatic mutations in mtDNA represent informative biomarkers for detecting ...
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A mitochondrial bioenergetic etiology of disease
... While mtDNA mutations have permitted humans to adapt to stable regional environmental energetic differences, many ener- gy resources and demands fluctuate cyclically, for example, sea- sonal changes in ...
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Differences in K-rasand mitochondrial DNA mutations and microsatellite instability between colorectal cancers of Vietnamese and Japanese patients
... Why is the incidence of early-onset CRC in the Vietnamese greater than that in the Japanese, and why do Vietnamese CRCs contain higher frequencies of genetic alterations, especially those of K-ras and mtDNA ...
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The role of mitochondria in aging
... from mtDNA mutator mice suggest that mtDNA mutations in somatic stem cells may drive progeroid phenotypes without increasing oxidative stress, thus indicating that mtDNA mutations that ...
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Tales from the crypt
... normal mtDNA genotype (no surprise here), but in many crypts they found numerous mtDNA mutations, both in COX-negative crypts (many, but not all, mutations were in COX or protein synthesis ...
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Aspects of mitochondrial DNA mutations in relation to human male fertilising potential
... The very tight coupling between mitochondrial energy production and motility, and between motility and fertilising potential suggests that if deleterious mtDNA mutations were present wit[r] ...
160
The mitochondrial genome, a growing interest inside an organelle
... from mutations in nDNA encoded mitochondrial proteins, at least some of which are likely to result in increased ROS production (Wallace ...G10398A mtDNA polymorphism is associated with increase risk for ...
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Site specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
... distinct mtDNA mutations in tissues, peripheral blood leukocytes, and cultured skin fibroblasts from MNGIE patients harboring loss-of-function TP ...the mutations in unaffected matrilineal relatives ...
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The ethics of mitochondrial replacement
... harmful mtDNA mutations often face uncertainty surrounding whether or not their genetic children will inherit a serious mitochondrial ...of mtDNA mutation an intending mother is carrying: a ...
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The Mitochondrial DNA Mitotype of Louis XVII (1785-1795?)
... the mtDNA haplogroup (determined by mutations in the HVR2 segment) coming from genomic DNA extracted from these hairs is identical to that of Marie-Antoinette, Louis XVII’s ...
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