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Science 4 February 2000:
Vol. 287. no. 5454, pp. 848 - 851
DOI: 10.1126/science.287.5454.848
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Reports

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

Bora E. Baysal, 1* Robert E. Ferrell, 2 Joan E. Willett-Brozick, 1 Elizabeth C. Lawrence, 2 David Myssiorek, 5 Anne Bosch, 6 Andel van der Mey, 7 Peter E. M. Taschner, 6 Wendy S. Rubinstein, 3 Eugene N. Myers, 4 Charles W. Richard , III, 9 Cees J. Cornelisse, 8 Peter Devilee, 6 B. Devlin 1

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.

1 Department of Psychiatry,
2 Department of Human Genetics,
3 Pittsburgh Cancer Institute,
4 Department of Otolaryngology, The University of Pittsburgh Medical Center, Pittsburgh, PA 15213-2593, USA.
5 Department of Otolaryngology and Communicative Disorders, Long Island Jewish Medical Center, New Hyde Park, New York, NY 11040, USA.
6 Department of Human Genetics,
7 Department of Otolaryngology,
8 Department of Pathology, Leiden University Medical Center, 2300 RA, Leiden, Netherlands.
9 Wyeth-Ayerst Research, Genetics Institute, 35 Cambridgepark Drive, Cambridge, MA 02140, USA.
*   To whom correspondence should be addressed. E-mail: baysalbe{at}msx.upmc.edu

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   Abstract »    Full Text »    PDF »
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.
R F Badenhop, J C Jansen, P A Fagan, R S A Lord, Z G Wang, W J Foster, and P R Schofield (2004)
J. Med. Genet. 41, e99
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The Diagnosis and Medical Management of Advanced Neuroendocrine Tumors.
G. A. Kaltsas, G. M. Besser, and A. B. Grossman (2004)
Endocr. Rev. 25, 458-511
   Abstract »    Full Text »    PDF »
The Quaternary Structure of the Saccharomyces cerevisiae Succinate Dehydrogenase: HOMOLOGY MODELING, COFACTOR DOCKING, AND MOLECULAR DYNAMICS SIMULATION STUDIES.
K. S. Oyedotun and B. D. Lemire (2004)
J. Biol. Chem. 279, 9424-9431
   Abstract »    Full Text »    PDF »
Identification of the Heme Axial Ligands in the Cytochrome b562 of the Saccharomyces cerevisiae Succinate Dehydrogenase.
K. S. Oyedotun, P. F. Yau, and B. D. Lemire (2004)
J. Biol. Chem. 279, 9432-9439
   Abstract »    Full Text »    PDF »
Genetic and epigenetic profile of sporadic pheochromocytomas.
A Cascon, S Ruiz-Llorente, M F Fraga, R Leton, D Telleria, J Sastre, J Jose Diez, G Martinez Diaz-Guerra, J A Diaz Perez, J Benitez, et al. (2004)
J. Med. Genet. 41, e30-30
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A Novel Succinate Dehydrogenase Subunit B Gene Mutation, H132P, Causes Familial Malignant Sympathetic Extraadrenal Paragangliomas.
M. Maier-Woelfle, M. Brandle, P. Komminoth, P. Saremaslani, S. Schmid, T. Locher, P. U. Heitz, I. Krull, R. L. Galeazzi, C. Schmid, et al. (2004)
J. Clin. Endocrinol. Metab. 89, 362-367
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The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
K J Livesey, V L C Wimhurst, K Carter, M Worwood, E Cadet, J Rochette, A G Roberts, J J Pointon, A T Merryweather-Clarke, M L Bassett, et al. (2004)
J. Med. Genet. 41, 6-10
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Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors.
R. Lehtonen, M. Kiuru, S. Vanharanta, J. Sjoberg, L.-M. Aaltonen, K. Aittomaki, J. Arola, R. Butzow, C. Eng, K. Husgafvel-Pursiainen, et al. (2004)
Am. J. Pathol. 164, 17-22
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Germline Succinate Dehydrogenase Subunit D Mutation Segregating with Familial Non-RET C Cell Hyperplasia.
J. Lima, J. Teixeira-Gomes, P. Soares, V. Maximo, M. Honavar, D. Williams, and M. Sobrinho-Simoes (2003)
J. Clin. Endocrinol. Metab. 88, 4932-4937
   Abstract »    Full Text »    PDF »
Mutations in the SDHB Gene Are Associated with Extra-adrenal and/or Malignant Phaeochromocytomas.
A.-P. Gimenez-Roqueplo, J. Favier, P. Rustin, C. Rieubland, M. Crespin, V. Nau, P. K. Van Kien, P. Corvol, P.-F. Plouin, and X. Jeunemaitre (2003)
Cancer Res. 63, 5615-5621
   Abstract »    Full Text »    PDF »
Mitochondrial complex I is deficient in renal oncocytomas.
H. Simonnet, J. Demont, K. Pfeiffer, L. Guenaneche, R. Bouvier, U. Brandt, H. Schagger, and C. Godinot (2003)
Carcinogenesis 24, 1461-1466
   Abstract »    Full Text »    PDF »
Pheochromocytoma: The Expanding Genetic Differential Diagnosis.
J. Bryant, J. Farmer, L. J. Kessler, R. R. Townsend, and K. L. Nathanson (2003)
J Natl Cancer Inst 95, 1196-1204
   Abstract »    Full Text »    PDF »
Pheochromocytoma: State-of-the-Art and Future Prospects.
E. L. Bravo and R. Tagle (2003)
Endocr. Rev. 24, 539-553
   Abstract »    Full Text »    PDF »
The Tumor Suppressor cybL, a Component of the Respiratory Chain, Mediates Apoptosis Induction.
T. Albayrak, V. Scherhammer, N. Schoenfeld, E. Braziulis, T. Mund, M. K.A. Bauer, I. E. Scheffler, and S. Grimm (2003)
Mol. Biol. Cell 14, 3082-3096
   Abstract »    Full Text »    PDF »
Mitochondrial Respiratory-Chain Diseases.
S. DiMauro and E. A. Schon (2003)
N. Engl. J. Med. 348, 2656-2668
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The respiratory response to carbon dioxide in humans with unilateral and bilateral resections of the carotid bodies.
M. Fatemian, D. J F Nieuwenhuijs, L. J Teppema, S. Meinesz, A. G L van der Mey, A. Dahan, and P. A Robbins (2003)
J. Physiol. 549, 965-973
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Multiple Tumors in Mitochondrial Diabetes Associated With tRNALeu(UUR) Mutation at Position 3264.
Y. Suzuki, S. Suzuki, M. Taniyama, T. Muramatsu, S. Ohta, Y. Oka, Y. Atsumi, and K. Matsuoka (2003)
Diabetes Care 26, 1942-1943
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Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.
C Bauters, M-C Vantyghem, E Leteurtre, M-F Odou, C Mouton, N Porchet, J-L Wemeau, C Proye, and P Pigny (2003)
J. Med. Genet. 40, e75-75
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Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation.
P Laiho, T Hienonen, J-P Mecklin, H Jarvinen, A Karhu, V Launonen, and L A Aaltonen (2003)
J. Med. Genet. 40, e73-73
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No fumarate hydratase (FH) mutations in hereditary prostate cancer.
R Lehtonen, M Kiuru, A Rokman, T Ikonen, J M Cunningham, D J Schaid, M Matikainen, N N Nupponen, A Karhu, O-P Kallioniemi, et al. (2003)
J. Med. Genet. 40, e19-19
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Global Transcription Analysis of Krebs Tricarboxylic Acid Cycle Mutants Reveals an Alternating Pattern of Gene Expression and Effects on Hypoxic and Oxidative Genes.
M. T. McCammon, C. B. Epstein, B. Przybyla-Zawislak, L. McAlister-Henn, and R. A. Butow (2003)
Mol. Biol. Cell 14, 958-972
   Abstract »    Full Text »    PDF »


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