CORDIS Project
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This project investigates congenital adrenal hyperplasia by analyzing mutations in key steroid synthesis enzymes. It aims to understand the impact of these mutations on protein stability and explore therapeutic strategies to restore enzyme function, potentially leading to new treatments for metabolic disorders.
Congenital Adrenal Hyperplasia (CAH) ranks amongst the most common inherited metabolic diseases.
It comprises a group of autosomal recessive disorders caused by mutations in genes encoding enzymes involved in steroid synthesis.
Two key enzymes are the cytochrome P450 (CYP) type II enzymes 21-hydroxylase (CYP21A2) and 17α-hydroxylase (CYP17A1), both requiring electron transfer from the electron donor enzyme P450 oxidoreductase (POR).
Functional analysis of CAH-causing mutations currently consists…
THE UNIVERSITY OF BIRMINGHAM
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