Familial Cancer

, Volume 4, Issue 1, pp 49–54

Mutations of the SDHB and SDHD genes

  • Christian Pawlu
  • Birke Bausch
  • Hartmut P. H. Neumann
Review

DOI: 10.1007/s10689-004-4227-4

Cite this article as:
Pawlu, C., Bausch, B. & Neumann, H.P.H. Familial Cancer (2005) 4: 49. doi:10.1007/s10689-004-4227-4

Abstract

The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular oxygene sensing and signaling. Mutations in the SDHB (1p35–36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paraganglioma and pheochromocytoma. For both genes mutations have been described that result in a loss of function of the gene products. SDHBmutations were found in five of eight exons and in two introns, SDHD mutations in all four exons and one intron. Phenotypes and rate of malignancy of SDHB and SDHD seem to be different, with a higher frequency of head-and-neck tumors in SDHD and indications of a higher risk of malignancy in SDHB mutations. As routine diagnostic procedure all SDH mutation carriers should have urine catecholamine analysis as well as pelvic, abdominal, thoracic and skull/neck MRI.

Keywords

head and neck tumor loss of heterozygosity maternal imprinting paraganglioma paraganglioma syndrome pheochromocytoma succinate dehydrogenase 

Copyright information

© Springer 2005

Authors and Affiliations

  • Christian Pawlu
    • 1
  • Birke Bausch
    • 1
  • Hartmut P. H. Neumann
    • 1
  1. 1.Department of Nephrology and HypertensionAlbert-Ludwigs-UniversitätFreiburgGermany