Elucidation of the cause, and treatment of X-linked retinitis pigmentosa
| Project/Area Number |
15K10842
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | University of Miyazaki |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
中馬 秀樹 宮崎大学, 医学部, 准教授 (20244204)
杉本 貴子 宮崎大学, 医学部, 助教 (40381074)
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | 網膜変性 / 黄斑変性 / 遺伝子 / 網膜変性症 / 黄斑変性症 |
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| Outline of Final Research Achievements |
We have found novel retinal degeneration disease in mountainous area of Miyazaki prefecture. Firstly, we have investigated of familial history with the novel disease, as a result, we detected two big pedigrees. Secondly, we have examined to various ophthalmologic examinations. As a result, features of the novel disease were late onset, and macular and peripheral retina degeneration with deposit. In the last, we have tried to detect of cause gene. We have examined to four gene, those gene have similar phenotype to the novel disease. As a consequence, we could not detect cause gene. For that reasen, we have examined hole exome sequencing, as a result, we have detected cause gene.
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| Academic Significance and Societal Importance of the Research Achievements |
本疾患の特徴である網膜下沈着物は、他の疾患においても遭遇する所見である。網膜下沈着物の発生機序は明らかにされていない。本研究で明らかとなった、新規遺伝子の機能解析を進めることで、網膜下沈着物の発生機序および、網膜変性疾患の機序解明の一助となる可能性が示唆される。また、本疾患は、一部の患者において脈絡膜新生血管を伴う症例があることや、網膜下沈着物を伴うことから、加齢黄斑変性として診断・治療されている場合が存在する。本疾患が明らかになることで、適切な診断、さらには治療に繋がる可能性が示唆される。
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Report
(5 results)
Research Products
(60 results)
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[Presentation] 落屑症候群に関連するLOXL1多型間に一貫してみられたペア相互作用2017
Author(s)
尾﨑峯生, 風間成泰, 新城歌子, 森洋斉, 宮田和典, 杉本貴子, 中馬秀樹, 直井信久, Susan Williams, Yury S Astakhov, Tin Aung, Chiea Chuen Khor
Organizer
第81回宮崎大学眼科研究会
Related Report
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