Mitochondrial Haplotypes and The Human Mitochondrial Diseases

作者：Zhuo Yue; Zhou Ling-Na; Teng Li-Sha; Wang Jian-Feng; Yuan Meng-Ping; Tang Xiao-Wen; Zheng Bin-Jiao; Xue Ling^*

来源：Progress in Biochemistry and Biophysics, 2016, 43(11): 1070-1075.

DOI：10.16476/j.pibb.2016.0202

• mitochondrion
• mitochondrial haplotype
• polymorphism
• mitochondrial disease

Mitochondrion is semi-autonomous organelle with genetic system. Through migration, isolation and evolution of human, mitochondrial DNA (mtDNA) formed a wide range of mitochondrial genome polymorphisms. Mitochondrial haplotype is referred to as the set of the same mtDNA SNP loci from a common ancestor. Different mitochondrial haplotypes affect the mitochondrial function to a certain extent, thus affecting the growth of cell, leading to diseases of individuals, such as Leber's hereditary optic neuropathy, maternally inherited deafness, type II diabetes, Parkinson disease and cancer. This review summarized several mitochondrial diseases related to mitochondria' haplotypes (A, B, D, F, G, H, J, K, M, N, R, T, U, Y,etc.) and some special mitochondria' polymorphic sites (G11778A, A1555 G, T3394C, G10398A, etc.).

• 出版日期2016-11
• 单位温州医科大学