Article Text

Download PDFPDF
Gene of the month: SDH
  1. Alessandro Pietro Aldera,
  2. Dhirendra Govender
  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
  1. Correspondence to Professor Dhirendra Govender, Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa; dhiren.govender{at}uct.ac.za

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.

  • genetics
  • neoplasms
  • molecular pathology

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes

  • Handling editor Tahir S Pillay.

  • Contributors Both authors have contributed equally to the manuscript.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.