氧化还原酶
生物
基因
遗传学
粒线体疾病
线粒体DNA
线粒体
核基因
突变
人类遗传学
表型
辅酶Q-细胞色素c还原酶
人类线粒体遗传学
电子传递复合体Ⅰ
呼吸链
生物化学
酶
细胞色素c
标识
DOI:10.1007/s10545-014-9768-6
摘要
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant. In a large proportion of cases the problem can be traced to a complex I (NADH-CoQ oxidoreductase) deficiency (Phenotype MIM #252010). Because the complex consists of 44 subunits, there are many potential targets for pathogenic mutations, both on the nuclear and mitochondrial genomes. Surprisingly, however, almost half of the complex I deficiencies are due to defects in as yet unidentified genes that encode proteins other than the structural proteins of the complex. This review attempts to summarize what we know about the molecular basis of complex I deficiencies: mutations in the known structural genes, and mutations in an increasing number of genes encoding "assembly factors", that is, proteins required for the biogenesis of a functional complex I that are not found in the final complex I. More such genes must be identified before definitive genetic counselling can be applied in all cases of affected families.
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