期刊
CURRENT OPINION IN GENETICS & DEVELOPMENT
卷 38, 期 -, 页码 52-62出版社
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2016.03.005
关键词
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资金
- Intramural Research Program of the NIH, National Institute of Environmental Health Sciences [ES 065078, ES 065080]
- NIH Pathway to Independence Award [1K99ES022638-01]
The human mitochondrial genome is replicated by DNA polymerase gamma in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS) such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders such as progressive external ophthalmoplegia, ataxia-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy. Here we review the current literature regarding human mtDNA replication and heritable disorders caused by genetic changes of the POLG, POLG2, Twinkle, RNASEH1, DNA2, and MGME1 genes.
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