Format

Send to:

Choose Destination
See comment in PubMed Commons below
Fam Cancer. 2005;4(1):9-12.

SDHC mutations in hereditary paraganglioma/pheochromocytoma.

Author information

  • 1Ulrich Müller, Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Schlangenzahl 14, Germany. Ulrich.Mueller@humangenetik.med.uni-giessen.de

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.

PMID:
15883704
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Write to the Help Desk