RESEARCH ON CONTROL OF STEROID HORMONE BIOSYNTHESIS

类固醇急性调节蛋白（Steroidogenic acute regulatory protein, StAR）在肾上腺和性腺类固醇激素生物合成的急性调节中起关键作用。StAR基因的突变最近被证明可引起先天性脂质肾上腺增生（CLAH）。在本研究中，我们分析了StAR基因。其中两个突变是新突变；一个S195A突变和一个R217T突变。我们证明了R217T突变完全消除了StAR活性，无论是异常剪接还是单氨基酸取代。我们也证明了46xx例CLAH患者表现为自发性青春期，但他们是无排卵的。

Steroidogenic acute regulatory protein (StAR) plays a critical role in the acute regulation of steroid hormone biosynthesisin adrenal glands and gonads. Mutations in the StAR gene have recently been demonstrated to cause congenital lipoid adrenal hyperplasia (CLAH). In the present study, we have analyzed the StAR gene. Two of the mutations were novel mutations; an S195A mutation and an R217T mutation. We demonstrated that the R217T mutation completely abolished StAR activity either the aberrant splicing or the single amino acid substitution. We also demonstrated the 46, XX patients with CLAH presented spontaneous puberty, but they were anovulatory.