Endocrine Abstracts

Seventeen years ago, germline mutations in the SDHD gene were reported to be associated with familial head and neck paraganglioma (HNPGL) and, subsequently, sporadic and familial phaeochromocytoma and paraganglipoma (PPGL). Thereafter germline mutations in other succinate dehydrogenase subunit genes (SDHB, SDHC, SDHA) were also found to predispose to HNPGL and PPGL. Succinate dehydrogenase has critical roles in the Krebs cycle and respiratory chain electron-t...

Since the discovery of mutations in succinate dehydrogenase (SDH) complex early this century, it has been shown that tumours underpinned by deficiencies in this metabolic enzyme will demonstrate altered cell metabolism. However, the precise nature of these changes remains poorly described. The metabolic network within cells is highly redundant, with multiple pathways capable of synthesising the required building blocks for cell growth. By the very fact that SDH-deficient cells...

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveil...