SDHA is a tumor suppressor gene causing paraganglioma
Délégation Paris 5 · Inserm · +12 more institutions
Abstract
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…
Citation impact
- FWCI
- 61.56
- Percentile
- 100%
- References
- 38
Authors
14- NBNelly BurnichonCorresponding
Délégation Paris 5, Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Hôpital Européen, Paris Cardiovascular Research Center
- JBJean-Jacques Brière
Columbia University
- RLRossella Libé
Délégation Paris 5, Inserm, Université Paris Cité, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Institut Cochin, Institut National du Cancer
- LVLaure Vescovo
La Ligue Contre le Cancer
- JRJulie Rivière
Délégation Paris 5, Inserm, Université Paris Cité, Paris Cardiovascular Research Center
Topics & keywords
- SDHD
- SDHB
- SDHA
- Paraganglioma
- Biology
- Pheochromocytoma
- Cancer research
- Germline mutation