Familial Cancer

, Volume 4, Issue 1, pp 9–12

SDHC mutations in hereditary paraganglioma/pheochromocytoma

  • Ulrich Müller
  • Christian Troidl
  • Stephan Niemann


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.


paraganglioma pheochromocytoma mitochondrial complex II SDHB SDHC SDHD 





flavoprotein subunit of mitochondrial complex II


iron–sulfur protein subunit of mitochondrial complex II


large subunit of cytochrome b of mitochondrial complex II


small subunit of cytochrome b of mitochondrial complex II


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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

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