Department of Pharmacy, Kerala University of Health Sciences, Thrissur, Kerala, India.
Department of Pharmaceutical Chemistry, College of Pharmacy, Jouf University, Sakaka, Al Jouf-2014, Saudi Arabia.
Curr Neuropharmacol. 2022;20(5):824-835. doi: 10.2174/1570159X19666210908163839.
Mitochondrial disorders are clinically heterogeneous, resulting from nuclear gene and mitochondrial mutations that disturb the mitochondrial functions and dynamics. There is a lack of evidence linking mtDNA mutations to neurodegenerative disorders, mainly due to the absence of noticeable neuropathological lesions in postmortem samples. This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke. These abnormalities, including PINK1, Parkin, and SOD1 mutations, seem to reveal mitochondrial dysfunctions due to either mtDNA mutation or deletion, the mechanism of which remains unclear in depth.
线粒体疾病具有临床表现的异质性,由核基因突变和线粒体突变引起,这些突变会干扰线粒体的功能和动态。目前尚无证据表明 mtDNA 突变与神经退行性疾病有关,主要是因为在尸检样本中没有明显的神经病理学损伤。本综述描述了阿尔茨海默病、帕金森病、肌萎缩侧索硬化症、多发性硬化症和中风中的各种基因突变。这些异常包括 PINK1、Parkin 和 SOD1 突变,似乎由于 mtDNA 突变或缺失导致线粒体功能障碍,但具体机制尚不清楚。