ea0041gp15 | Adrenal (1) | ECE2016
Chen Yiqing
, Schaefer Kerstin
, Gasteiger Maria
, Taylor Angela
, Arlt Wiebke
, Krone Nils
, Gersting Soeren W.
, Reisch Nicole
Background: Mutations of 21-hydroxylase (CYP21A2) cause congenital adrenal hyperplasia. Its severe (classic) form constitutes a life-threatening disease. Patients suffer a significant disease burden due to co-morbidities that are often treatment-related. The current therapeutic situation is unsatisfying and demands novel treatment approaches. In silico modelling suggests protein misfolding and intracellular retention to play a significant role in the pathogenesis of C...