| Project/Area Number |
62440042
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| Research Category |
Grant-in-Aid for General Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
TADA Keiya Tohoku University, School of Medicine, Professor, 医学部, 教授 (20046907)
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| Co-Investigator(Kenkyū-buntansha) |
KIKUCHI Masahiro Tohoku University, Hospital, Department of Pediatrics, Assistant, 医学部・附属病院, 助手
OHURA Toshihiro Tohoku University Hospital, Department of Pediatrics, Assistant, 医学部・附属病院, 助手 (10176828)
菊地 正宏 東北大学, 医学部・附属病院, 助手
石沢 志信 東北大学, 医学部, 講師 (60158748)
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| Project Period (FY) |
1987 – 1990
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| Project Status |
Completed (Fiscal Year 1990)
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| Budget Amount *help |
¥24,100,000 (Direct Cost: ¥24,100,000)
Fiscal Year 1990: ¥3,000,000 (Direct Cost: ¥3,000,000)
Fiscal Year 1989: ¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 1988: ¥6,000,000 (Direct Cost: ¥6,000,000)
Fiscal Year 1987: ¥12,000,000 (Direct Cost: ¥12,000,000)
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| Keywords | Nonketotic Hyperglycinemia / Glycine Cleavage System / Prenatal Diagnosis / 非ケト-シス型高グリシン血症 / 遺伝子診断 / グリシン開裂反応 / 高グリシン血症 / グリシン脳症 / グリシン代謝 / 先天代謝異常 |
|---|
| Research Abstract |
Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder, which is characterized by rapidly progressing neurological symptoms in early infancy and a grave prognosis. The primary lesion was found to be a defect in the glycine cleavage system (GCS). Since the majority of NKH patients has a defect in P-protein of GCS by our previous studies, we cloned cDNA encoding human P-protein. Using this cDNA as a prove, genomic analysis of P-protein gene was carried out in NKH patients who were proved to have a specific defect in P-protein. In one out of eight patients, a partial deletion in P-protein gene was found by the Southern blot method. In another patient with NKH who has a defect in P-protein, a three-base deletion which result in deletion of Phe^<756> was found. Cos 7 cells in which normal P-protein cDNA was expressed had the activity of 6.9 <plus-minus> 0.41 nmole/mg protein/h. In contrast, Cos 7 cells in which the mutant cDNA was expressed showed no activity, indicating that the three-base deletion could cause NKH.
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