The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
SDHA is a tumor suppressor gene causing paraganglioma
Open accessAbstract
Mitochondrial succinate-coenzyme Q reductase (complex II) consists of four subunits, SDHA, SDHB, SDHC and SDHD. Heterozygous germline mutations in SDHB, SDHC, SDHD and SDHAF2 [encoding for succinate dehydrogenase (SDH) complex assembly factor 2] cause hereditary paragangliomas and pheochromocytomas. Surprisingly, no genetic link between SDHA and paraganglioma/pheochromocytoma syndrome has ever been established. We identified a heterozygous germline SDHA mutation, p.Arg589Trp, in a woman suffering from catecholamine-secreting abdominal paraganglioma. The functionality of the SDHA mutant was assessed by studying SDHA, SDHB, HIF-1alpha and CD34 protein expression using immunohistochemistry and by examining the effect of the mutation in a yeast model. Microarray analyses were performed to study gene expression involved in energy metabolism and hypoxic pathways. We also investigated 202 paragangliomas or pheochromocytomas for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC and SDHD loci by BAC array comparative genomic hybridization. In vivo and in vitro functional studies demonstrated that the SDHA mutation causes a loss of SDH enzymatic activity in tumor tissue and in the yeast model. Immunohistochemistry and transcriptome analyses established that the SDHA mutation causes pseudo-hypoxia, which leads to a subsequent increase in angiogenesis, as other SDHx gene mutations. LOH was detected at the SDHA locus in the patient's tumor but was present in only 4.5% of a large series of paragangliomas and pheochromocytomas. The SDHA gene should be added to the list of genes encoding tricarboxylic acid cycle proteins that act as tumor suppressor genes and can now be considered as a new paraganglioma/pheochromocytoma susceptibility gene.
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Citations
Cites
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase
Selak, M. A., Armour, S. M., MacKenzie, E. D., Boulahbel, H., Watson, D. G., Mansfield, K. D., Pan, Y., Simon, M. C., Thompson, C. B., & Gottlieb, E. (2005) · Cancer Cell · doi:10.1016/j.ccr.2004.11.022 · Cited by 2,108 · cited 1×
“SDHD, SDHB and SDHC (SDHx) mutations cause a cascade of molecular events leading to the abnormal stabilization of hypoxia-inducible factors (HIF) under normoxic conditions (2) or pseudo-hypoxia (via inactivation of SDH, accumulation of succinate, inhibition of prolyl-4-hydroxylases and subsequent impairment of HIF hyd…”
BackgroundArchitecture of succinate dehydrogenase and reactive oxygen species generation
Yankovskaya, V., Horsefield, R., Törnroth, S., Luna-Chavez, C., Miyoshi, H., Léger, C., Byrne, B., Cecchini, G., & Iwata, S. (2003) · Science · doi:10.1126/science.1079605 · Cited by 927
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · cited 1×
“Although ‘type I Fp’ SDHA was located on chromosome 5 (5p15) (6), the location of the putative ‘type II Fp’ intronless gene was never identified.”
BackgroundSelf-citationSDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Hao, H.-X., Khalimonchuk, O., Schraders, M., Dephoure, N., Bayley, J.-P., Kunst, H., Devilee, P., Cremers, C. W. R. J., Schiffman, J. D., Bentz, B. G., et al. (2009) · Science · doi:10.1126/science.1175689 · Cited by 702 · cited 4×
“The requirement of SDHAF2 for flavination is supported by a dramatic decrease in FAD in SDHA with a concomitant loss of SDH enzymatic activity in SDHAF2-related paragangliomas (2).”
BackgroundInfluentialA HIF1α Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
Dahia, P. L. M., Ross, K. N., Wright, M. E., Hayashida, C. Y., Santagata, S., Barontini, M., Kung, A. L., Sanso, G., Powers, J. F., Tischler, A. S., et al. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010008 · Cited by 443
Guzy, R. D., Sharma, B., Bell, E., Chandel, N. S., & Schumacker, P. T. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01338-07 · Cited by 427 · cited 1×
“to understand why SDHB, SDHC and SDHD mutations are associated with a tumor phenotype, whereas SDHA mutations are not (21).”
BackgroundThe Warburg effect is genetically determined in inherited pheochromocytomas
Favier, J., Brière, J.-J., Burnichon, N., Rivière, J., Vescovo, L., Benit, P., Giscos-Douriez, I., De Reyniès, A., Bertherat, J., Badoual, C., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007094 · Cited by 232
Self-citationSelak, M. A., Durán, R. V., & Gottlieb, E. (2006) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2006.05.015 · Cited by 59
Baysal, B. E., Lawrence, E. C., & Ferrell, R. E. (2007) · BMC Biology · doi:10.1186/1741-7007-5-12 · Cited by 39
Cited by
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline
Lenders, J. W. M., Duh, Q.-Y., Eisenhofer, G., Gimenez-Roqueplo, A.-P., Grebe, S. K. G., Murad, M. H., Naruse, M., Pacak, K., & Young, W. F. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1498 · Cited by 2,827
Self-citationMitochondrial ROS in cancer: initiators, amplifiers or an Achilles' heel?
Sabharwal, S. S., & Schumacker, P. T. (2014) · Nature Reviews Cancer · doi:10.1038/nrc3803 · Cited by 1,622
Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us?
DeBerardinis, R. J., & Thompson, C. B. (2012) · Cell · doi:10.1016/j.cell.2012.02.032 · Cited by 858
Pheochromocytoma and Paraganglioma
Neumann, H. P. H., Young, W. F., & Eng, C. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1806651 · Cited by 736
Janeway, K. A., Kim, S. Y., Lodish, M., Nosé, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1009199108 · Cited by 628
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Metadata
- Authors
- Burnichon, N., Brière, J.-J., Libé, R., Vescovo, L., Rivière, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Bénit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., & Gimenez-Roqueplo, A.-P.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-05-18
- Volume
- 19
- Issue
- 15
- Pages
- 3011-3020
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2119169141
- Cited by
- 650
- References
- 9
- FWCI
- 62.72
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Burnichon, N., Brière, J.-J., Libé, R., Vescovo, L., Rivière, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Bénit, P., Tzagoloff, A., Rustin, P., Bertherat, J., Favier, J., & Gimenez-Roqueplo, A.-P. (2010). SDHA is a tumor suppressor gene causing paraganglioma. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddq206
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