PT  - JOURNAL ARTICLE
AU  - Aldera, Alessandro Pietro
AU  - Govender, Dhirendra
TI  - Gene of the month: SDH
AID  - 10.1136/jclinpath-2017-204677
DP  - 2018 Feb 01
TA  - Journal of Clinical Pathology
PG  - 95--97
VI  - 71
IP  - 2
4099  - http://jcp.bmj.com/content/71/2/95.short
4100  - http://jcp.bmj.com/content/71/2/95.full
SO  - J Clin Pathol2018 Feb 01; 71
AB  - 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.