Taylor Robert W, Turnbull Doug M
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, NE2 4HH, United Kingdom.
Nat Rev Genet. 2005 May;6(5):389-402. doi: 10.1038/nrg1606.
The human mitochondrial genome is extremely small compared with the nuclear genome, and mitochondrial genetics presents unique clinical and experimental challenges. Despite the diminutive size of the mitochondrial genome, mitochondrial DNA (mtDNA) mutations are an important cause of inherited disease. Recent years have witnessed considerable progress in understanding basic mitochondrial genetics and the relationship between inherited mutations and disease phenotypes, and in identifying acquired mtDNA mutations in both ageing and cancer. However, many challenges remain, including the prevention and treatment of these diseases. This review explores the advances that have been made and the areas in which future progress is likely.
与核基因组相比,人类线粒体基因组极其微小,线粒体遗传学带来了独特的临床和实验挑战。尽管线粒体基因组规模小,但线粒体DNA(mtDNA)突变却是遗传性疾病的一个重要病因。近年来,在理解线粒体基本遗传学、遗传性突变与疾病表型之间的关系以及识别衰老和癌症中获得性mtDNA突变方面取得了相当大的进展。然而,仍存在许多挑战,包括这些疾病的预防和治疗。本综述探讨了已取得的进展以及未来可能取得进展的领域。