Mitochondrial genome variants and neurodegenerative diseases / 中华医学遗传学杂志

ABSTRACT

Neurodegenerative diseases are a group of diseases characterized by chronic progressive damage to tissues of central nervous system and peripheral nervous system, which include Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia, etc. The etiology is mainly related to factors such as aging, genetics and environment. More and more evidence indicate that mitochondrial dysfunction plays a vital role in the pathogenesis of neurodegenerative diseases. Variants of mitochondrial genes, including point variants, deletions, and copy number variations, have been recognized as important factors modulating genetic susceptibility to such diseases. This paper has reviewed recent studies for the influence of mitochondrial variants on the pathogenesis of neurodegenerative diseases, in order to provide clues for the pathogenesis, diagnosis and development of new drugs for such disorders.