期刊
ANNALS OF MEDICINE
卷 37, 期 3, 页码 222-232出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/07853890510007368
关键词
haplotypes; heteroplasmy; homoplasmy; maternal inheritance; mitochondrial DNA; mtDNA
资金
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [P01HD032062] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [P01NS011766, P50NS011766] Funding Source: NIH RePORTER
- NICHD NIH HHS [HD32062] Funding Source: Medline
- NINDS NIH HHS [NS11766] Funding Source: Medline
The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence of mtDNA-related diseases, and consider recent additions to the already long list of pathogenic mutations (especially mutations affecting protein-coding genes). We then discuss more controversial issues, including the functional or pathological role of mtDNA haplotypes, the pathogenicity of homoplasmic mutations and the still largely obscure pathophysiology of mtDNA mutations.
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