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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

On the association of succinate dehydrogenase mutations with hereditary paraganglioma.

Hereditary paraganglioma (PGL) is characterized by the development of slow-growing, highly vascularized tumors that can present either as hormonally silent head and neck tumors or as abdominal pheochromocytomas. PGL tumors are caused by germline inactivating heterozygous mutations in the SDHB, SDHC and SDHD genes, which encode three of the four subunits of succinate dehydrogenase (SDH; succinate:ubiquinone oxidoreductase; mitochondrial complex II). Here, potential mechanisms by which SDH mutations could lead to tumor development are discussed. Mechanisms that lead to variations in the prevalence, penetrance and expressivity of SDH subunit mutations remain to be clarified to improve the clinical management of PGL patients. Recently, germline mutations in the FH gene, the product of which (fumarate hydratase) catalyzes the conversion of fumarate to malate in the Krebs cycle, have been detected in a distinct hereditary tumor syndrome, which is characterized by uterine and skin leiomyomatosis and papillary renal cancer. Although the exact mechanisms of tumorigenesis in both disorders are unknown, SDH and FH could be involved in the control of cell proliferation under normal physiological conditions in the affected tissue types. Whereas SDH might be involved in hypoxic proliferation of paraganglia, FH might play an important role in the regulation of ammonium metabolism in smooth muscle cells.[1]


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