Report

Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Science  04 Feb 2000:
Vol. 287, Issue 5454, pp. 848-851
DOI: 10.1126/science.287.5454.848

You are currently viewing the abstract.

View Full Text

Via your Institution

Log in through your institution

Log in through your institution


Abstract

Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying thePGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain protein—the small subunit of cytochrome b in succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting. These findings indicate that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.

  • * To whom correspondence should be addressed. E-mail: baysalbe{at}msx.upmc.edu

View Full Text

Related Content