RT Journal Article
SR Electronic
T1 Gene of the month: SDH
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP jclinpath-2017-204677
DO 10.1136/jclinpath-2017-204677
A1 Alessandro Pietro Aldera
A1 Dhirendra Govender
YR 2017
UL http://jcp.bmj.com/content/early/2017/10/25/jclinpath-2017-204677.abstract
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.