help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Gimenez-Roqueplo, A.-P.
Right arrow Articles by Jeunemaitre, X.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gimenez-Roqueplo, A.-P.
Right arrow Articles by Jeunemaitre, X.
The Journal of Clinical Endocrinology & Metabolism Vol. 87, No. 10 4771-4774
Copyright © 2002 by The Endocrine Society

Original Article

Functional Consequences of a SDHB Gene Mutation in an Apparently Sporadic Pheochromocytoma

Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, Claudine Rieubland, Véronique Kerlan, Pierre-François Plouin, Agnès Rötig and Xavier Jeunemaitre

Département de Génétique Moléculaire (A.-P.G.-R., C.R., X.J.), Hôpital Européen Georges Pompidou, Assistance Publique/Hôpitaux de Paris, Paris; Institut National de la Santé et de la Recherche Médicale (INSERM) U36 (J.F., X.J.), Collège de France, Paris; INSERM U393 (P.R., A.R.), Hôpital des Enfants Malades, Paris; Service d’Endocrinologie (V.K.), Hôpital de la Cavale Blanche, Brest, France; and Service d’Hypertension Artérielle (P.-F.P.), Hôpital Européen Georges Pompidou, Paris, France

Address all correspondence and requests for reprints to: Dr. Anne-Paule Gimenez-Roqueplo, Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20–40, rue Leblanc, 75015 Paris, France. E-mail: Anne-Paule.Gimenez{at}hop.egp.ap-hop-paris.fr.

Abstract

Three genes encoding for mitochondrial complex II proteins are linked to hereditary paraganglioma. We have recently shown that an inactivation of the SDHD gene is associated with a complete loss of mitochondrial complex II activity and a stimulation of the angiogenic pathway (Gimenez-Roqueplo, A. P., J. Favier, P. Rustin, J. J. Mourad, P. F. Plouin, P. Corvol, A. Rötig, and X. Jeunemaitre, 2001, Am J Hum Genet 69:1186–1197). Here, we relate the case of a malignant sporadic pheochromocytoma induced by a germline missense mutation of the SDHB gene. Within the tumor, a loss of heterozygosity at chromosome 1pter led to a null SDHB allele and to a complete loss of complex II enzymatic activity. In situ hybridization and immunohistochemistry experiments showed a high expression of hypoxic-angiogenic responsive genes, similar to that previously observed in inherited-SDHD tumors. This observation highlights the role of the complex II mitochondrial genes in the oxygen-sensing pathway and in the regulation of angiogenesis of neural crest-derived tumors.




This article has been cited by other articles:


Home page
 J. Clin. Endocrinol. Metab.Home page
N. Burnichon, V. Rohmer, L. Amar, P. Herman, S. Leboulleux, V. Darrouzet, P. Niccoli, D. Gaillard, G. Chabrier, F. Chabolle, et al.
The Succinate Dehydrogenase Genetic Testing in a Large Prospective Series of Patients with Paragangliomas
J. Clin. Endocrinol. Metab., August 1, 2009; 94(8): 2817 - 2827.
[Abstract] [Full Text] [PDF]

Home page
 Endocr Relat CancerHome page
H. J L M Timmers, A.-P. Gimenez-Roqueplo, M. Mannelli, and K. Pacak
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma
Endocr. Relat. Cancer, June 1, 2009; 16(2): 391 - 400.
[Abstract] [Full Text] [PDF]

Home page
 JNCI J Natl Cancer InstHome page
C. Ricketts, E. R. Woodward, P. Killick, M. R. Morris, D. Astuti, F. Latif, and E. R. Maher
Germline SDHB Mutations and Familial Renal Cell Carcinoma
J Natl Cancer Inst, September 3, 2008; 100(17): 1260 - 1262.
[Abstract] [Full Text] [PDF]

Home page
 JNCI J Natl Cancer InstHome page
C. Eng
SDHB--A Gene for All Tumors?
J Natl Cancer Inst, September 3, 2008; 100(17): 1193 - 1195.
[Full Text] [PDF]

Home page
 Cancer Res.Home page
A. M. Cervera, N. Apostolova, F. L. Crespo, M. Mata, and K. J. McCreath
Cells Silenced for SDHB Expression Display Characteristic Features of the Tumor Phenotype
Cancer Res., June 1, 2008; 68(11): 4058 - 4067.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
L. Amar, E. Baudin, N. Burnichon, S. Peyrard, S. Silvera, J. Bertherat, X. Bertagna, M. Schlumberger, X. Jeunemaitre, A.-P. Gimenez-Roqueplo, et al.
Succinate Dehydrogenase B Gene Mutations Predict Survival in Patients with Malignant Pheochromocytomas or Paragangliomas
J. Clin. Endocrinol. Metab., October 1, 2007; 92(10): 3822 - 3828.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
E. D. MacKenzie, M. A. Selak, D. A. Tennant, L. J. Payne, S. Crosby, C. M. Frederiksen, D. G. Watson, and E. Gottlieb
Cell-Permeating {alpha}-Ketoglutarate Derivatives Alleviate Pseudohypoxia in Succinate Dehydrogenase-Deficient Cells
Mol. Cell. Biol., May 1, 2007; 27(9): 3282 - 3289.
[Abstract] [Full Text] [PDF]

Home page
 Br Med BullHome page
E. R. Maher
Genetics of phaeochromocytoma
Br. Med. Bull., June 1, 2006; 79-80(1): 141 - 151.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
D. E. Benn, A.-P. Gimenez-Roqueplo, J. R. Reilly, J. Bertherat, J. Burgess, K. Byth, M. Croxson, P. L. M. Dahia, M. Elston, O. Gimm, et al.
Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes
J. Clin. Endocrinol. Metab., March 1, 2006; 91(3): 827 - 836.
[Abstract] [Full Text] [PDF]

Home page
 JCOHome page
L. Amar, J. Bertherat, E. Baudin, C. Ajzenberg, B. Bressac-de Paillerets, O. Chabre, B. Chamontin, B. Delemer, S. Giraud, A. Murat, et al.
Genetic Testing in Pheochromocytoma or Functional Paraganglioma
J. Clin. Oncol., December 1, 2005; 23(34): 8812 - 8818.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
P.J. Pollard, J.J. Briere, N.A. Alam, J. Barwell, E. Barclay, N.C. Wortham, T. Hunt, M. Mitchell, S. Olpin, S.J. Moat, et al.
Accumulation of Krebs cycle intermediates and over-expression of HIF1{alpha} in tumours which result from germline FH and SDH mutations
Hum. Mol. Genet., August 1, 2005; 14(15): 2231 - 2239.
[Abstract] [Full Text] [PDF]

Home page
 JCOHome page
W. Y. Kim and W. G. Kaelin
Role of VHL Gene Mutation in Human Cancer
J. Clin. Oncol., December 15, 2004; 22(24): 4991 - 5004.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
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.
A Novel Succinate Dehydrogenase Subunit B Gene Mutation, H132P, Causes Familial Malignant Sympathetic Extraadrenal Paragangliomas
J. Clin. Endocrinol. Metab., January 1, 2004; 89(1): 362 - 367.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
J. Lima, J. Teixeira-Gomes, P. Soares, V. Maximo, M. Honavar, D. Williams, and M. Sobrinho-Simoes
Germline Succinate Dehydrogenase Subunit D Mutation Segregating with Familial Non-RET C Cell Hyperplasia
J. Clin. Endocrinol. Metab., October 1, 2003; 88(10): 4932 - 4937.
[Abstract] [Full Text] [PDF]

Home page
 Cancer Res.Home page
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
Mutations in the SDHB Gene Are Associated with Extra-adrenal and/or Malignant Phaeochromocytomas
Cancer Res., September 1, 2003; 63(17): 5615 - 5621.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 2002 by The Endocrine Society