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Identification of mitochondrial targeting signal in glyoxylate reductase/hydroxypyruvate reductase (GRHPR)and Surveillance of primary hyperoxalurias

乙醛酸还原酶/羟基丙酮酸还原酶 (GRHPR) 中线粒体靶向信号的鉴定和原发性高草酸尿症的监测

基本信息

批准号：
20591878
负责人：
TAKAYAMA Tatsuya
金额：
$ 2.66万
依托单位：
Hamamatsu University School of Medicine
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2008
资助国家：
日本
起止时间：
2008 至 2010
项目状态：
已结题

项目摘要

Nucleotide sequence of the cDNA for the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene, which is candidate enzyme for primary hyperoxaluria type 2 (PH2), indicates that the gene encodes the a 328-amino-acid protein with a calculated molecular weight of 35,563Da. We demonstrated that GRHPR is located both in the cytoplasm and in mitochondria. However, mitochondrial targeting sequence has not still identified and we are vigorously exploring it. We also identified new mutation of the GRHPR gene. PH1 is diagnosed by the decrease or loss of the serine : pyruvate alanine : glyoxylate aminotransferase (SPT/AGT) activity in human liver biopsy, but the essential enzyme in the assay of SPT is no longer in production. We confirmed that the activity of AGT in human liver can be determined by either AGT, SGT or SPT activity.

乙醛酸还原酶/羟基丙酮酸还原酶(GRHPR)基因是原发性高草酸尿症(PH2)的候选酶，该基因编码一个由328个氨基酸组成的蛋白质，计算相对分子质量为35,563。我们证明GRHPR既位于细胞质中，也存在于线粒体中。然而，线粒体靶向序列仍未确定，我们正在积极探索。我们还发现了GRHPR基因的新突变。PH1是通过人肝活检中丝氨酸：丙酮酸丙氨酸：乙醛转氨酶(SPT/AGT)活性的降低或丧失来诊断的，但SPT检测中的关键酶已不再生产。我们证实人肝脏中AGT的活性可以通过AGT、SGT或SPT的活性来确定。