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J Clin Pathol. 2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25.

Gene of the month: SDH.

Author information

1
Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town and National Health Laboratory Service - Groote Schuur hospital, Cape Town, South Africa.

Abstract

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.

KEYWORDS:

genetics; molecular pathology; neoplasms

PMID:
29070651
DOI:
10.1136/jclinpath-2017-204677
[Indexed for MEDLINE]

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