Summary of genetic and molecular mechanisms implicated in Cushing's syndrome

For each cause, the various genetic mutations or abnormal protein expression believed to play a part in the pathophysiology are shown. The most frequent mechanisms are highlighted in blue characters; the well-characterized mechanisms are highlighted in bold characters, and other potential mechanisms are in normal characters; a question mark shows an unconfirmed association or genetic predisposition.

ACTH: corticotropin; AC: adenylate cyclase; GPCR: G-protein-coupled receptor; Gs-alpha: alpha subunit of Gs; ATP: adenosine triphosphate; cAMP: cyclic adenosine monophosphate; PDEs: phosphodiesterases; GEP-NETs: gastroenteropancreatic neuroendocrine tumors; PKA: protein kinase; R1-alpha: type 1-alpha regulatory subunit of PKA; C-alpha: catalytic subunit of PKA; BMAH: bilateral macronodular adrenal hyperplasia; PPNAD: primary pigmented nodular adrenocortical disease.

Graphic 112079 Version 2.0

خرید پکیج

Summary of genetic and molecular mechanisms implicated in Cushing's syndrome