Abstract
Steroid 21-hydroxylase encoded by CYP21 is expressed in adrenal cortex. Mutations in CYP21 cause potentially lethal congenital adrenal hyperplasia (CAH). Earlier observations suggested alternative sources of 21-hydroxylase activity, although its genetic source remains unclear. We found a novel source of CYP21 expression in normal human cultured B lymphocytes. The quantity of 21-hydroxylase transcript was reduced in B cell lines of CAH subjects compared with that in normal B-lymphoblastoid cells. No CYP21 transcript was detected in lymphocytes from a CAH patient with homozygous CYP21 deletion. Cultured lymphoid cells, including those carrying homozygous CYP21 deletion, and peripheral blood leukocytes converted both 17-hydroxy-progesterone to 11-deoxycortisol and progesterone to deoxycorticosterone. We conclude that lymphocytes express CYP21, but also possess a 21-hydroxylase distinct from CYP21. Activity of this isozyme may partially compensate for severe adrenal 21-hydroxylase deficiency.
Original language | English (US) |
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Pages (from-to) | 11-18 |
Number of pages | 8 |
Journal | Molecular and Cellular Endocrinology |
Volume | 127 |
Issue number | 1 |
DOIs | |
State | Published - Mar 14 1997 |
Keywords
- Adrenal hyperplasia
- Congenital
- Isozymes
- Lymphocytes
- Phenotype
- Steroid 21-monooxygenase
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Endocrinology