1990 Fiscal Year Final Research Report Summary
Elucidation of Pathogenesis of Hyperglycinemia
| 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)
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| Project Period (FY) |
1987 – 1990
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| Keywords | Nonketotic Hyperglycinemia / Glycine Cleavage System / Prenatal Diagnosis |
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| 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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Research Products
(7 results)
