Familial Cancer

, Volume 4, Issue 1, pp 9–12

SDHC mutations in hereditary paraganglioma/pheochromocytoma

Review
  • Ulrich Müller
  • Christian Troidl
  • Stephan Niemann
Article

DOI: 10.1007/s10689-004-0621-1

Cite this article as:
Müller, U., Troidl, C. & Niemann, S. Familial Cancer (2005) 4: 9. doi:10.1007/s10689-004-0621-1

Abstract

Mutations in genes coding for three of the four components of mitochondrial complex II can cause paragangliomas (PGLs)/pheochromocytomas. The three genes include SDHB, -C, and -D. SDHC and SDHD anchor the catalytic subunits SDHA and -B of mitochondrial complex II in the inner mitochondrial membrane. SDHD is maternally imprinted but SDHB and -C are not. While SDHD and – to a lesser degree – SDHB mutations have been found in many cases of hereditary PGL, SDHC mutations are rare. This article reviews the SDHC mutations described to date and discusses possible mechanisms of tumorigenesis.

Keywords

paragangliomapheochromocytomamitochondrial complex IISDHBSDHCSDHD

Abbreviations

PGL

paraganglioma

SDHA

flavoprotein subunit of mitochondrial complex II

SDHB

iron–sulfur protein subunit of mitochondrial complex II

SDHC

large subunit of cytochrome b of mitochondrial complex II

SDHD

small subunit of cytochrome b of mitochondrial complex II

Copyright information

© Springer 2005

Authors and Affiliations

  • Ulrich Müller
    • 1
  • Christian Troidl
    • 1
  • Stephan Niemann
    • 1
  1. 1.Ulrich Müller, Institut für HumangenetikJustus-Liebig-UniversitätGiessenGermany