Research Progress on the Relationship between Mitochondrial DNA Copy Number and Human Disease
SU Yazhen, HUANG Yuan, WANG Changrong, ZHANG Xu, LIU Fang, CHEN Che*
Mitochondria are the energy conversion center of cells, and participate in many physiological activities such as apoptosis, calcium regulation, free radical metabolism, iron metabolism, signal transmission, etc. The function of mitochondria depends on the normal mitochondrial genome. In the past, most studies on mitochon drial genome focused on mitochondrial DNA mutation leading to mitochondrial dysfunction and disease. However, in recent years, the variation of mitochondrial DNA copy number has attracted the attention of researchers. Mito chondrial DNA copy number is one of the indicators of mitochondrial activity, and its variation reflects the biogen esis and function of mitochondria. Mitochondrial DNA copy number variation exists in a variety of human diseases, but the mechanisms regulating mitochondrial DNA copy number have not been fully elucidated. This paper dis cusses the relationship between mitochondrial DNA copy number and diseases such as mitochondrial diseases, ag ing and age-related neurodegenerative diseases, cancer, and the regulatory mechanism of mitochondrial DNA copy number. This paper provides theoretical basis for the treatment, diagnosis and research of related diseases.
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