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Article: Studies from Schleswig-Holstein University, Department of Pediatrics further understanding of congenital adrenal hyperplasia.
- Article from:
- Women's Health Weekly
- Article date:
- August 21, 2008
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A new study, 'Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction,' is now available. "Congenital adrenal hyperplasia is caused by insufficient adrenal steroid biosynthesis due to impaired steroidogenic enzymes. The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene," scientists in Kiel, Germany report (see also Congenital Adrenal Hyperplasia).
"Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A >C ...