Respiratory chain complex I deficiency

被引:133
作者
Triepels, RH [1 ]
Van den Heuvel, LP [1 ]
Trijbels, JM [1 ]
Smeitink, JA [1 ]
机构
[1] Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochrondrial Disorders, NL-6500 HB Nijmegen, Netherlands
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 106卷 / 01期
关键词
mitochondria; OXPHOS; complex I; ubiquinone; mutation;
D O I
10.1002/ajmg.1397
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Oxidative phosphorylation disorders make a contribution of 1 per 10,000 live births in man, of which isolated complex I deficiency is frequently the cause. Complex I, or NADH:ubiquinone oxidoreductase, is the largest multi-protein enzyme complex of the mitochondrial electron transfer chain. In complex I deficiency, various clinical phenotypes have been recognized, often resulting in multi-system disorders with a fatal outcome at a young age. Recent advances in complex I deficiency, regarding clinical, biochemical, and molecular aspects are described. However, the genetic causes of about 60% of complex I deficiency remain unclear. As a consequence, further research will be needed to clarify the genetic defects in the remaining cases. Novel strategies in which interesting non-structural nuclear-encoded disease-causing genes may be found, as well as the molecular genetic composition of human complex I, are presented. (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:37 / 45
页数:9
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