PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE
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 but now it...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2014-05-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fphar.2014.00103/full |
| _version_ | 1811324580358258688 |
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| author | Amit V Pandey Amit V Pandey Patrick eSproll |
| author_facet | Amit V Pandey Amit V Pandey Patrick eSproll |
| author_sort | Amit V Pandey |
| collection | DOAJ |
| description | 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 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 allele is found in about 30% of all alleles but there are some differences across different population groups. |
| first_indexed | 2024-04-13T14:18:03Z |
| format | Article |
| id | doaj.art-d7a0e54cafd54219904d220466397543 |
| institution | Directory Open Access Journal |
| issn | 1663-9812 |
| language | English |
| last_indexed | 2024-04-13T14:18:03Z |
| publishDate | 2014-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj.art-d7a0e54cafd54219904d2204663975432022-12-22T02:43:36ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122014-05-01510.3389/fphar.2014.0010391448PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASEAmit V Pandey0Amit V Pandey1Patrick eSproll2University of BernUniversity of BernUniversity of BernCytochrome 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 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 allele is found in about 30% of all alleles but there are some differences across different population groups.http://journal.frontiersin.org/Journal/10.3389/fphar.2014.00103/fullAromataseSteroid Metabolism, Inborn Errorscytochrome P450drug metabolismdrug metabolizing enzymescytochrome P450 reductase |
| spellingShingle | Amit V Pandey Amit V Pandey Patrick eSproll PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE Frontiers in Pharmacology Aromatase Steroid Metabolism, Inborn Errors cytochrome P450 drug metabolism drug metabolizing enzymes cytochrome P450 reductase |
| title | PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE |
| title_full | PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE |
| title_fullStr | PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE |
| title_full_unstemmed | PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE |
| title_short | PHARMACOGENOMICS OF HUMAN P450 OXIDOREDUCTASE |
| title_sort | pharmacogenomics of human p450 oxidoreductase |
| topic | Aromatase Steroid Metabolism, Inborn Errors cytochrome P450 drug metabolism drug metabolizing enzymes cytochrome P450 reductase |
| url | http://journal.frontiersin.org/Journal/10.3389/fphar.2014.00103/full |
| work_keys_str_mv | AT amitvpandey pharmacogenomicsofhumanp450oxidoreductase AT amitvpandey pharmacogenomicsofhumanp450oxidoreductase AT patrickesproll pharmacogenomicsofhumanp450oxidoreductase |