SDH mutations in cancer

被引：316

作者：

Bardella, Chiara ^{[1
]}

Pollard, Patrick J.

Tomlinson, Ian ^{[1
]}

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | 2011年 / 1807卷 / 11期

基金：

英国惠康基金;

关键词：

Succinate dehydrogenase; Mitochondrial tumor suppressor genes; Hereditary paraganglioma-phaechromocytoma; syndrome; DEHYDROGENASE-B GENE; GERM-LINE MUTATIONS; COMPLEX-II GENE; FAMILIAL NONCHROMAFFIN PARAGANGLIOMAS; COMPARATIVE GENOMIC HYBRIDIZATION; AUTOSOMAL-DOMINANT PARAGANGLIOMA; MITOCHONDRIAL RESPIRATORY-CHAIN; GASTROINTESTINAL STROMAL TUMORS; SUCCINATE-UBIQUINONE REDUCTASE; CARNEY-STRATAKIS-SYNDROME;

D O I：

10.1016/j.bbabio.2011.07.003

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：

The SDHA, SDHB, SDHC, SDHD genes encode the four subunits of succinate dehydrogenase (SDH; mitochondrial complex II), a mitochondrial enzyme involved in two essential energy-producing metabolic processes of the cell, the Krebs cycle and the electron transport chain. Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. Owing to the central function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis. (C) 2011 Elsevier B.V. All rights reserved.

引用

页码：1432 / 1443

页数：12

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