Pharmacogenomics of human P450 oxidoreductase

Pandey, Amit Vikram; Sproll, Patrick (2014). Pharmacogenomics of human P450 oxidoreductase. Frontiers in Pharmacology, 5, p. 103. Frontiers 10.3389/fphar.2014.00103

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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.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Pandey, Amit Vikram

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1663-9812

Publisher:

Frontiers

Language:

English

Submitter:

André Schaller

Date Deposited:

18 Mar 2015 16:12

Last Modified:

31 Jan 2018 02:29

Publisher DOI:

10.3389/fphar.2014.00103

PubMed ID:

24847272

Uncontrolled Keywords:

Antley–Bixler syndrome P450 oxidoreductase P450 oxidoreductase deficiency P450c17 aromatase disorders of sexual development drug metabolism steroid metabolism

BORIS DOI:

10.7892/boris.65307

URI:

https://boris.unibe.ch/id/eprint/65307

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