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Comprehensive mutational screening of genes maintaining the glycine concentrations in the central nervous system

Comprehensive mutational screening of genes maintaining the glycine concentrations in the central nervous system
维持中枢神经系统甘氨酸浓度的基因的全面突变筛选
批准号:
17591067
负责人:
KURE Shigeo
金额:
$2.24万
依托单位:
依托单位国家:
日本
项目类别:
Grant-in-Aid for Scientific Research (C)
财政年份:
2005
资助国家:
日本
项目状态:
已结题
起止时间:
2005 至 2006

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中文摘要
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英文摘要
We have screened 120 families with elevated glycine concentration in plasma and/or cerebrospinal fluids. By the previous screening of GLDC and AMT genes, we identified the causative mutations in 70% of affected families. The purpose of this study is to perform the mutational screening of other candidate gene in the rest of the 35 families. As the candidate genes, which-affect the extracellular glycine concentrations we selected five genes, the GCSH, DLD, LPT, GLYT1, and GLYT2 genes. The GLDC, AMT, and DLD genes encode enzymes which involved in the glycine metabolism while GLYT1 and GLYT2 genes encode specific transporters of glycine. In the GCSH gene, we have identified a base change at the splicing acceptor consensus sequence, AT, in intron 4. No GCSH mutation was detected in other cases. The AT was substituted into GT, which is supposed to abolish the splicing function of this intron. The patients was given a diagnosis as having transient hyperglycinemia. The other mutation identified was missense mutation in LPT gene, which resulted in amino acid substitution form arginine to glycine. The arginine residue is highly conserved among the other spices, suggesting the evolutional importance. No other mutation have been detected in this series of the mutational screening. We concluded that hyperglycinemia can be caused by the other genes than GLDC or AMT.
期刊论文(21)
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会议论文
Rapid and non-invasive diagnosis of glycine encephalopathy by 13C-glycine breath test
13C-甘氨酸呼气试验快速、无创诊断甘氨酸脑病
DOI: --
发表时间: 2006
期刊: Ann Neurol 59
影响因子: --
作者: [Kamada K, Yoshida A, Khamsri B, Piroozm, A, Yamashita T, Uchiyama T, Fujita M, Adachi A., Kure S et al.]
通讯作者: Kure S et al.
Non ketotic hyperglycinemia associated with primary pulmonary hypertension and acylglycinuria in three families
三个家系中与原发性肺动脉高压和酰基甘氨酸尿相关的非酮症高甘氨酸血症
DOI: --
发表时间: 2006
期刊: Ann Neurol 60
影响因子: --
作者: [Khamsri B, Murao F, Yoshida A, Sakurai A, Uchiyama T, Shirai H, Matsuo Y, Fujita M, Adachi A., Del Toro M]
通讯作者: Del Toro M
Encylopedic Reference of Molecular Mechanism of Disease
疾病分子机制百科全书参考
DOI: --
发表时间:
期刊:
影响因子: --
作者: [Kure S, Tada K]
通讯作者: Tada K
Ischemia-induce brain damage depends on the glycine cleavage system via extracellular glycine concentration.
缺血引起的脑损伤取决于通过细胞外甘氨酸浓度的甘氨酸裂解系统。
DOI: --
发表时间: 2007
期刊: Stroke (in press)
影响因子: --
作者: [Oda M, et al.]
通讯作者: et al.
16
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    • 项目类别:
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    • 项目类别:
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