Mitochondrial DNA variation in human evolution and disease

作者：Wallace DC^*; Brown MD; Lott MT

来源：Gene, 1999, 238(1): 211-230.

DOI：10.1016/S0378-1119(99)00295-4

• Leber's hereditary optic neuropathy
• mitochondrial disease
• mitochondrial DNA
• mtDNA mutation

Analysis of mitochondrial DNA (mtDNA) variation has permitted the reconstruction of the ancient migrations of women. This has provided evidence that our species arose in Africa about 150 000 years before present (YBP), migrated out of Africa into Asia about 60 000 to 70 000 YBP and into Europe about 40 000 to 50 000 YBP, and migrated from Asia and possibly Europe to the Americas about 20 000 to 30 000 YBP. Although much of the mtDNA variation that exists in modern populations may be selectively neutral, studies of the mildly deleterious mtDNA mutations causing Leber's hereditary optic neuropathy (LHON) have demonstrated that some continent-specific mtDNA lineages are more prone to manifest the clinical symptoms of LHON than others. Hence, all mtDNA lineages are not equal, which may provide insights into the extreme environments that were encountered by our ancient ancestor, and which may be of great importance in understanding the pathophysiology of mitochondrial disease.

• 出版日期1999-9-30