The use of induced pluripotent stem cells to reveal pathogenic gene mutations and explore treatments for retinitis pigmentosa

2014 Fiscal Year Final Research Report

• Project/Area Number: 24592647
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Keio University
• Principal Investigator: OZAWA Yoko 慶應義塾大学, 医学部, 講師 (90265885)
• Research Collaborator: TETSU Yoshida 慶應義塾大学, 医学部, 特任助教 ; WADO Akamatsu 慶應義塾大学, 医学部, 講師 (60338184) ; HARUNA Mabuchi 慶應義塾大学, 医学部, 特任研究員 (70465011)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 網膜 / 幹細胞 / iPS / 再生 / 神経保護

Outline of Final Research Achievements

We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K). The cells were then subjected to retinal differentiation; the resulting rod photoreceptor cells were labeled with an Nrl promoter-driven enhanced EGFP-carrying adenovirus and purified using flow cytometry after 5 weeks of culture. Using this approach, we found a reduced survival rate in the photoreceptor cells with the E181K mutation, which was correlated with the increased expression of endoplasmic reticulum (ER) stress and apoptotic markers. The use of RP patient-derived iPSCs provided a system that can be used to explore candidate therapeutic approaches.

Free Research Field

眼科学