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Pharmacogenomics of human P450 oxidoreductase.

  • Pandey AV Division of Pediatric Endocrinology, Department of Pediatrics, University Children's Hospital Bern Bern, Switzerland ; Program in Molecular Life Sciences, Department of Biology, University of Bern Bern, Switzerland.
  • Sproll P Program in Molecular Life Sciences, Department of Biology, University of Bern Bern, Switzerland.
  • 2014-05-22
Published in:
  • Frontiers in pharmacology. - 2014
Antley–Bixler syndrome
P450 oxidoreductase
P450 oxidoreductase deficiency
P450c17
aromatase
disorders of sexual development
drug metabolism
steroid metabolism
English Cytochrome P450 oxidoreductase (POR) supports reactions of microsomal cytochrome P450 which metabolize drugs and steroid hormones. Mutations in POR cause disorders of sexual development. P450 oxidoreductase deficiency (PORD) was initially identified in patients with Antley-Bixler syndrome (ABS) but now it has been established as a separate disorder of sexual development (DSD). Here we are summarizing the work on variations in POR related to metabolism of drugs and xenobiotics. We have compiled mutation data on reported cases of PORD from clinical studies. Mutations found in patients with defective steroid profiles impact metabolism of steroid hormones as well as drugs. Some trends are emerging that establish certain founder mutations in distinct populations, with Japanese (R457H), Caucasian (A287P), and Turkish (399-401) populations showing repeated findings of similar mutations. Most other mutations are found as single occurrences. A large number of different variants in POR gene with more than 130 amino acid changes are now listed in databases. Among the polymorphisms, the A503V is found in about 30% of all alleles but there are some differences across different population groups.
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  • English
Open access status
gold
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https://sonar.ch/global/documents/127861
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