突变型细胞色素P450氧化还原酶无论是否伴有安特利-比克斯勒综合征都会导致类固醇生成紊乱。
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
作者信息
Flück Christa E, Tajima Toshihro, Pandey Amit V, Arlt Wiebke, Okuhara Kouji, Verge Charles F, Jabs Ethylin Wang, Mendonça Berenice B, Fujieda Kenji, Miller Walter L
机构信息
Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA.
出版信息
Nat Genet. 2004 Mar;36(3):228-30. doi: 10.1038/ng1300. Epub 2004 Feb 1.
Deficient activities of multiple steroidogenic enzymes have been reported without and with Antley-Bixler syndrome (ABS), but mutations of corresponding cytochrome P450 enzymes have not been found. We identified mutations in POR, encoding P450 oxidoreductase, the obligate electron donor for these enzymes, in a woman with amenorrhea and three children with ABS, even though knock-out of POR is embryonically lethal in mice. Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion.
已有报道称，无论是否伴有安特利-比克斯勒综合征（ABS），多种类固醇生成酶均存在活性不足的情况，但尚未发现相应细胞色素P450酶的突变。我们在一名闭经女性和三名患有ABS的儿童中发现了编码P450氧化还原酶（这些酶的专一性电子供体）的POR基因的突变，尽管在小鼠中敲除POR基因在胚胎期是致死的。POR基因的突变也会影响参与药物代谢的P450酶，这就解释了ABS与孕妇摄入氟康唑之间的关联。
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