Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma-Reference-Cited by-同舟云学术

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

Published:2000-02-04 Issue:5454 Volume:287 Page:848-851
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Baysal Bora E.¹,Ferrell Robert E.²,Willett-Brozick Joan E.¹,Lawrence Elizabeth C.²,Myssiorek David³,Bosch Anne²,Mey Andel van der⁴,Taschner Peter E. M.²,Rubinstein Wendy S.⁵,Myers Eugene N.⁶,Richard Charles W.⁷,Cornelisse Cees J.⁸,Devilee Peter²,Devlin B.¹

Affiliation:

1. Department of Psychiatry,

2. Department of Human Genetics,

3. Department of Otolaryngology and Communicative Disorders, Long Island Jewish Medical Center, New Hyde Park, New York, NY 11040, USA.

4. Department of Otolaryngology,

5. Pittsburgh Cancer Institute,

6. Department of Otolaryngology, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213–2593, USA.

7. Wyeth-Ayerst Research, Genetics Institute, 35 Cambridgepark Drive, Cambridge, MA 02140, USA.

8. Department of Pathology, Leiden University Medical Center, 2300 RA, Leiden, Netherlands.

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 the PGL1 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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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