Gene of the month: SDH
Gene of the month: SDH
复制标题
DOI：
10.1136/jclinpath-2017-204677
复制
发表时间：
2018-02-01
影响因子：
3.4
通讯作者：
Govender, Dhirendra
中科院分区：
文献类型：
--
作者：
Aldera, Alessandro Pietro;Govender, Dhirendra
琥珀酸脱氢酶（SDH）是一种异源四聚体编码的线粒体蛋白复合物，在柠檬酸循环和电子传递链中发挥作用。SDHA的生殖系突变与Leigh综合征相关。SDHB、SDHC和SDHD的突变在越来越多的肿瘤中发现，最显著的是副神经节瘤和野生型胃肠道间质瘤。这些肿瘤中的SDH缺陷具有重要的预后意义，也为分子治疗提供了新的靶点。在这篇文章中，我们概述了SDH的结构和功能，并提供了它在各种疾病中的作用的总结。
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in SDHA are associated with Leigh syndrome. Mutations in SDHB, SDHC and SDHD are found in an increasing number of neoplasms, most notably paragangliomas and wild-type gastrointestinal stromal tumours. SDH deficiency in these tumours has important prognostic implications, and also provides a novel target for molecular therapy. In this article, we outline the structure and function of SDH and provide a summary of its role in various diseases.