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- W2090281930 abstract "Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the investigation of the mitochondrial DNA (mtDNA) copy number relative to nuclear DNA (nDNA) in leukocytes from carriers of the HD mutation compared to healthy individuals. We found significantly reduced mtDNA/nDNA in HD mutation carriers compared to controls. A longitudinal study of archive DNA sample pairs from HD patients revealed a biphasic pattern of increasing mtDNA/nDNA before onset of motor symptoms and decreasing mtDNA/nDNA after." @default.
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- W2090281930 date "2014-07-01" @default.
- W2090281930 modified "2023-10-17" @default.
- W2090281930 title "Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease" @default.
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- W2090281930 doi "https://doi.org/10.1016/j.mito.2014.05.001" @default.
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