Searchable abstracts of presentations at key conferences in endocrinology

ea0063p444 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

The Arg244His missense mutation in SDHB-1 leads to altered metabolism in Caenorhabditis elegans: a new disease model

Saskoi Eva , Hujber Zoltan , Liko Istvan , Meszaros Katalin , Sarkadi Balazs , Matyasi Barbara , Kovacs Attila L , Patthy Laszlo , Nyiro Gabor , Svab Gergely , Tretter Laszlo , Mehta Anil , Sebestyen Anna , Patocs Attila , Takacs-Vellai Krisztina

The succinate dehydrogenase (SDH) enzyme complex consisting of four subunits (SDHA, SDHB, SDHC and SDHD) has a dual function in the process of mitochondrial energy generation. It converts succinate to fumarate as part of the TCA cycle and also transfers electrons to ubiquinone as part of the electron transport chain. Mutation in any subunit of the enzyme complex increases the risk for the development of neuroendocrine tumors including paraganglioma (PGL) and pheochromocytoma (...