| Project/Area Number |
10671052
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Endocrinology
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| Research Institution | NATIONAL CHILDREN'S HOSPITAL |
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Principal Investigator |
KATSUMATA Noriyuki NATIONAL CHILDREN'S HOSPITAL, NATIONAL CHILDREN'S MEDICAL RESEARCH CENTER, DEPARTMENT OF ENDOCRINOLOGY AND METABOLISM, CHIEF OF METABOLIC RESEARCH LABORATORY, 小児医療研究センター・内分泌代謝研究部・代謝研究室長 (10260340)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1999: ¥1,000,000 (Direct Cost: ¥1,000,000)
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| Keywords | Steroid Hormone / Biosynthesis / Steroidogenic Acute Regulatory Protein (StAR) / Congenital Lipoid Adrenal Hyperplasia / Gene / Mutation / Steroidogenic Acute Regulatory Proein(StAR) |
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| Research Abstract |
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.
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