2017 Fiscal Year Final Research Report
Roles of EYS in retinitis pigmentosa
Project/Area Number |
16H07505
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Research Category |
Grant-in-Aid for Research Activity Start-up
|
Allocation Type | Single-year Grants |
Research Field |
Ophthalmology
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Research Institution | Foundation for Biomedical Research and Innovation |
Principal Investigator |
Maeda Akiko 公益財団法人先端医療振興財団, その他部局等, 講師 (40776423)
|
Project Period (FY) |
2016-08-26 – 2018-03-31
|
Keywords | EYS / 網膜色素変性 / 遺伝子診断 / iPS細胞 / 遺伝性網膜疾患 |
Outline of Final Research Achievements |
Patients with EYS-RP carry nonsense variants at the high rate and they displayed a severe classical type of RP phenotype. Moreover, patients with EYS nonsense variants have more severe RP as compared with patients with missense variants. We performed a new genetic analysis with a panel and more than 22% of subjects were identified as EYS-RP. We developed anti-EYS antibody and carried out westernblotting and immunohistochemistry. EYS expression was detected in bovine retina by westernblotting and in the photoreceptor outer segments in monkey retinas. We established iPSC from 3 patients with EYS-RP. These iPSC were differentiated into three-dimensionalretinal organoids. Until now, we were not able to detect clear RP phenotype in these retinal organoids.
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Free Research Field |
眼科学
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