Searchable abstracts of presentations at key conferences in endocrinology

ea0005oc22 | Obesity and Diabetes | BES2003

Defining the molecular basis for apparent cortisone reductase deficiency reveals a novel redox potential mechanism within the endoplasmic reticulum

Draper N , Walker E , Bujalska I , Tomlinson J , Chalder S , Bedendo O , Mason P , Laing I , Ray D , Malunowicz E , Connell J , Hewison M , Stewart P

11beta-Hydroxysteroid dehydrogenase (11beta-HSD) catalyses the interconversion of hormonally active cortisol (F) and inactive cortisone (E). 11beta-HSD1 is an NADP(H) dependent enzyme expressed in human liver and adipose that is targeted to the ER membrane with a lumenal catalytic domain. In vivo the enzyme acts predominantly as a reductase, generating F from E. The inherited condition, Apparent Cortisone Reductase Deficiency (ACRD) is a form of PCOS characterised by ACTH medi...