Development of novel treatment for retinitis pigmentosa using patient-derived iPS cells

2018 Fiscal Year Final Research Report

• Project/Area Number: 17H06820
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Ophthalmology
• Research Institution: Kyoto University
• Principal Investigator: Oishi Akio 京都大学, 医学研究科, 特定病院助教 (50572955)
• Research Collaborator: Miyata Manabu ; Numa Shogo ; Otsuka Yuki
• Project Period (FY): 2017-08-25 – 2019-03-31
• Keywords: 網膜色素変性 / 疾患特異的iPS細胞 / stop codon readthrough / 遺伝子治療

Outline of Final Research Achievements

We established disease-specific iPS cells from retinitis pigmentosa patients with homozygous EYS c.8805C>A mutations. These cells will be available through Riken BioResource Center after a certain period. Two-dimentional retina-like cell culture was established from these iPS cells. Candidate drugs are screened for their potential to modulate expression of EYS mRNA and protein. In addition, while we reviewed genotype-phenotype correlations in patients with retinitis pigmentosa, we found that environmental factors such as tobacco smoking may affect clinical course.

Free Research Field

眼科

Academic Significance and Societal Importance of the Research Achievements

本研究では、網膜色素変性の原因として本邦で特に頻度の高い変異をもつiPS細胞を樹立した。本細胞株は理研BRCに寄託しており、他の研究者も自由に使用することが出来るため更なる発展につながる可能性がある。また本研究で得られた環境因子（喫煙）による病態の修飾という知見については、直ちに臨床に還元することも可能なものであり、確立した治療法のない本疾患にとって重要なものになると考えらえる。