2010 Fiscal Year Final Research Report
Identification of mitochondrial targeting signal in glyoxylate reductase/hydroxypyruvate reductase (GRHPR)and Surveillance of primary hyperoxalurias
| Project/Area Number |
20591878
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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 |
Urology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
TAKAYAMA Tatsuya Hamamatsu University School of Medicine, 医学部附属病院, 講師 (90324350)
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| Co-Investigator(Kenkyū-buntansha) |
OZONO Seiichiro 浜松医科大学, 医学部, 教授 (00183228)
NAGATA Masao 浜松医科大学, 医学部附属病院, 助教 (70397397)
TAKAOKA Naohisa 浜松医科大学, 医学部, 特任研究員 (30467229)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 結石症学 |
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| Research Abstract |
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.
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[Presentation] The relationship between molecular analysis and ethnic differences of genotype in Japanese patients with primary hyperoxaluria type 2.2008
Author(s)
Takayama T, Takaoka N, Miyazaki M, Nagata M, Mugiya S, Johnin K, Okada Y, Kuhara T, Cramer SD, Ozono S.
Organizer
11th International Symposium on Urolithiasis
Place of Presentation
Nice, France.
Year and Date
2008-09-04
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