Succinate dehydrogenase and human diseases:: new insights into a well-known enzyme

被引：187

作者：

Rustin, P ^{[1
]}

Munnich, A ^{[1
]}

Rötig, A ^{[1
]}

机构：

[1] Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75015 Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷 / 05期

关键词：

succinate dehydrogenase; mitochondria; paraganglioma; phaeochromocytomas; encephalomyopathy;

D O I：

10.1038/sj.ejhg.5200793

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Inherited defects of the mitochondrial succinate dehydrogenase (SDH) in humans are associated with striking variable clinical presentations ranging from early-onset devastating encephalomyopathy to tumour susceptibility in adulthood, or optic atrophy in the elderly. Although different genes encoding the four subunits of the SDH have been found mutated in association with these different phenotypes, we propose that the wide clinical spectrum actually originates from the specific roles of the SDH in the respiratory chain and the mitochondria. In particular, beside its function in the Krebs cycle and the respiratory chain, the specific redox properties of the enzyme could confer to the SDH a specific function in superoxide handling.

引用

页码：289 / 291

页数：3