期刊
MITOCHONDRION
卷 17, 期 -, 页码 14-21出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2014.05.001
关键词
Huntington's disease; Mitochondrial DNA copy number; Biphasic
资金
- Novo Nordisk Fonden [NNF11OC1014514] Funding Source: researchfish
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. (C) 2014 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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