Identification of novel causative genes for retinitis pigmentosa - Utilizing data from whole exome analysis of affected patients

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K09992
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: Osaka University
• Principal Investigator: Sato Shigeru 大阪大学, 医学系研究科, 准教授 (70738525)
• Co-Investigator(Kenkyū-buntansha): 不二門 尚 大阪大学, 生命機能研究科, 特任教授 (50243233)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 遺伝性網膜変性症 / 全エクソームシーケンス

Outline of Final Research Achievements

This study successfully identified 22 candidate genes for novel inherited retinal degenerations. In fact, as planned, we used the results of whole exome analysis of patients with hereditary retinal degeneration to extract rare SNPs in cases where the causative gene could not be identified or candidate mutations were not found, and further narrowed down the list by referring to the gene expression profile in the retina of mouse models of retinitis pigmentosa, as previously reported. The genes were checked gene expression patterns in wild-type mouse retina was confirmed by in situ hybridization. As a result, we identified 22 genes whose functions in the retina have not yet been analyzed for further investigation. We have started to create animal models to analyze the functions of these genes in the retina. We will analyze the gene functions in vivo in the model animals in order to identify the causative genes of new hereditary retinal degenerations.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

本研究により同定した新規網膜色素変性症の候補遺伝子は非常に有望と考えている。実際22個のうち1遺伝子は本研究期間内に、新規遺伝性網膜色素変性の原因遺伝子であると他のグループから報告されたことからも、非常に有効な絞り込みができていると考えている。本研究を継続することにより、新規網膜色素変性症の原因遺伝子が同定できれば、網膜色素変性の新規メカニズムの解明、並びに新規治療開発に役立つのみならず、遺伝カウンセリングにも有用な情報となる。