Succinate dehydrogenase (SDH) is an enzyme complex composed of four major subunits (A,B, C and D). It is localized on the inner side of the mitochondrial membrane and is part of the citric acid cycle and respiratory chain. The germinal mutations lead to the familial paraganglioma syndrome. Somatic inactivation of the second allele of the mutated gene causes the inactivation of the encoded subunit, destabilization of the whole complex and also leads to the loss of its enzymatic function, which significantly affects the cell oncogenesis.
A small part of GIST is associated with the loss of function of SDH. GISTs may carry germline mutations of the gene encoding one of the SDH subunits (i.e. SDHA, SDHB, SDHC, SDHD) either as part of Carney - Stratakis syndrome (familial paraganglioma - GIST syndrome) or as a sporadic "wild type" GIST.
Examination in our laboratory, we perform the examination of SDHB, SDHC a SDHD genes using PCR and direct sequencing.
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