线粒体DNA
线粒体脑肌病
慢性进行性外眼肌麻痹
生物
氧化应激
粒线体疾病
线粒体
线粒体肌病
医学
突变
神经科学
人类线粒体遗传学
遗传学
生物信息学
基因
内分泌学
作者
O. A. Zhunina,N. G. Yabbarov,Andrey V. Grechko,Shaw‐Fang Yet,Igor A. Sobenin,Alexander N. Orekhov
标识
DOI:10.2174/1381612825666191122091320
摘要
Mitochondrial dysfunction underlies several human chronic pathologies, including cardiovascular disorders, cancers and neurodegenerative diseases. Impaired mitochondrial function associated with oxidative stress can be a result of both nuclear and mitochondrial DNA (mtDNA) mutations. Neurological disorders associated with mtDNA mutations include mitochondrial encephalomyopathy, chronic progressive external ophthalmoplegia, neurogenic weakness, and Leigh syndrome. Moreover, mtDNA mutations were shown to play a role in the development of Parkinson and Alzheimer's diseases. In this review, current knowledge on the distribution and possible roles of mtDNA mutations in the onset and development of various neurodegenerative diseases, with special focus on Parkinson's and Alzheimer's diseases has been discussed.
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