Iron-sulfur cluster biogenesis and human disease

被引：308

作者：

Rouault, Tracey A. ^{[1
]}

Tong, Wing Hang ^{[1
]}

机构：

[1] NICHHD, NIH, Program Mol Med, Bethesda, MD 20892 USA

来源：

TRENDS IN GENETICS | 2008年 / 24卷 / 08期

关键词：

D O I：

10.1016/j.tig.2008.05.008

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Iron-sulfur (Fe-S) clusters are essential for numerous biological processes, including mitochondrial respiratory chain activity and various other enzymatic and regulatory functions. Human Fe-S cluster assembly proteins are frequently encoded by single genes, and inherited defects in some of these genes cause disease. Recently, the spectrum of diseases attributable to abnormal Fe-S cluster biogenesis has extended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 and a myopathy associated with a deficiency of a Fe-S cluster assembly scaffold protein, ISCU. Mutations within other mammalian Fe-S cluster assembly genes could be causative for human diseases that manifest distinctive combinations of tissue-specific impairments. Thus, defects in the iron-sulfur cluster biogenesis pathway could underlie many human diseases.

引用

页码：398 / 407

页数：10

共 81 条

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