2003 Fiscal Year Final Research Report Summary
Study of glaucoma associated genes and development of DNA diagnostic panel and therapeutic vector
| Project/Area Number |
14370564
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | KEIO UNIVERSITY |
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Principal Investigator |
MASHIIMA Yukihiko Keio University, School of Medicine, Associate professor, 医学部, 助教授 (40157186)
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| Co-Investigator(Kenkyū-buntansha) |
TANLNO Tomihiko Keio University, School of Medicine, Instructor, 医学部, 助手 (50217147)
OHTAKE Yuichirou Keio University, School of Medicine, Assistant professor, 医学部, 助手 (30233159)
KUDOH Jun Keio University, School of Medicine, Assistant professor, 医学部, 講師 (80178003)
IWATA Takeshi Tokyo Medical Center, Chief Investigator, 内感覚器センター(仮称), 主任研究員
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| Project Period (FY) |
2002 – 2003
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| Keywords | glaucoma / myocilin / optineurin / SNP / Invader assay / diagnosis / ganglion / mutation |
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| Research Abstract |
We identified the genetic frequency of mutations of glaucoma gene MYOC as approximately 3.0%, and OPTN as 0.25% in Japanese patients. On the base of these information, we developed diagnostic DNA panel by Invader assay. Sixty and six single nucleotide polymorphisms (SNP) from 40 presumed glaucoma associated genes were also screening in 671 Japanese population as a case-control study. Eight SNPs from 8 genes were associated with glaucoma patients.
We determined cDNA sequences and analyzed the expression of pig MYOC and OPTN in trabecular meshwork cells and astrocytes from the optic nerve head under normal and experimental conditions. The alternations of expression of MYOC and not OPTN under stress suggest that different mechanisms regarding phenotype of glaucoma are in development of glaucoma associated with the two genes Mouse homologue of AOC2 was cloned for characterization. We constructed the vector that can particularly transport some gene into ganglion cells.
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Research Products
(10 results)
