SDH5 mutations and familial paraganglioma: somewhere Warburg is smiling.
Paragangliomas have been linked to mutations affecting the succinate dehydrogenase complex. In a recent issue of Science, Rutter and coworkers showed that SDH5 is required for the flavination of SDHA, which is necessary for SDH assembly and function. Moreover, they detected SDH5 mutations in a large kindred with familial paraganglioma.
Kaelin
William G
WG
Howard Hughes Medical Institute, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Boston, MA 02115, USA. william_kaelin@dfci.harvard.edu
D002952:Citric Acid Cycle / Q000502:physiology; D049308:Dioxygenases / Q000378:metabolism; D042963:Electron Transport Complex II / Q000378:metabolism; D005190:Family; D005420:Flavoproteins / Q000378:metabolism; D005649:Fumarate Hydratase / Q000235:genetics; D006801:Humans; D007656:Ketoglutaric Acids / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics*; D008954:Models, Biological; D009154:Mutation / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics*; D010375:Pedigree; D021122:Protein Subunits / Q000378:metabolism; D013385:Succinate Dehydrogenase / Q000378:metabolism
D005420:Flavoproteins; D007656:Ketoglutaric Acids; D024101:Mitochondrial Proteins; D021122:Protein Subunits; C543341:SDHAF2 protein, human; D049308:Dioxygenases; D042963:Electron Transport Complex II; C511268:SDHA protein, human; D013385:Succinate Dehydrogenase; D005649:Fumarate Hydratase