Searchable abstracts of presentations at key conferences in endocrinology

ea0029p122 | Adrenal medulla | ICEECE2012

A Novel SDHC mutation associated with Head-Neck Paraganglioma

Rasmussen P. , Friis-Hansen L. , Gerdes A. , Langer S. , Feldt-Rasmussen U.

Germline mutations in the succinate-dehydrogenase subunits A, B, C, and D (SDHA/B/C/D) predispose to development of the phaeochromocytoma-paraganglioma (FPGL) syndromes. SDHC and SDHD are anchoring proteins located in the inner mitochondrial membrane. The SDH complex has two major roles in energy production it is part of the tricarboxic acid cycle catalysing the oxidative dehydrogenation of succinate coupled to the reduction of ubiquinone. It is also the complex II component o...