PDE8B variants in adrenal tumours

Mutations in the genes of several components of the cAMP signalling pathway have been demonstrated in adrenocortical tumours. Phosphodiesterases regulate cAMP degradation, and many PDE mutations have been implicated in adrenal tumourigenesis. In this case-control study, Rothenbuhler and colleagues screen for genetic variations in PDE8B, finding nine sequence changes, of which six have not been previously reported and two demonstrate significant potential functional impairment. These data support the view that PDE8B is a key genetic factor in the predisposition to adrenocortical tumours. Rothenbuhler et al. (2012) Clinical Endocrinology 77 195–199.

Read the full article at: DOI: 10.1111/j.1365-2265.2012.04366.x