线粒体疾病的分子诊断(6)

线粒体病 mitochondrial disorders—— 是一组高度临床变异性和遗传异质性的疾病 16,569 bp circular double stranded (mtDNA)20%

线粒体蛋白(结构和功能)

1,500 nuclear genes 80%

——Shoubridge, 2001; Schapira,2000

structural protein of the OXPHOS complexes protein required for assembly of OXPHOS complexes proteins involved in mtDNA translation proteins involved in mtDNA maintenance proteins involved in mitochondrial fusion and fission

Douglas C. Wallace, 1817–1819

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