Investigation of the function of potassium channel Kir7.1 in retinal pigment epithelial cells

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K09700
• 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: Okayama University
• Principal Investigator: Morizane Yuki 岡山大学, 医歯薬学域, 教授 (50432646)
• Co-Investigator(Kenkyū-buntansha): 大内 淑代 岡山大学, 医歯薬学域, 教授 (00253229)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 網膜色素上皮細胞 / カリウムチャネル

Outline of Final Research Achievements

We analyzed the function of KCNJ13, the causative gene of Leber congenital amaurosis 16 (LCA16), one of the hereditary retinal dystrophies, in the retinal pigment epithelium (RPE). As a result, it was revealed that the deletion of the KCNJ13 gene leads to a constant hyperactivation of oxidative stress response in the RPE, an increase in cell death due to externally induced oxidative stress, and a decrease in the expression of genes involved in antioxidant reactions. Furthermore, it was elucidated that the KCNJ13 gene also plays an important role in transepithelial transport in the RPE. These findings molecularly elucidate a part of the pathogenic mechanism of LCA16 and provide insights that will serve as a basis for the development of future therapeutic strategies.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

本研究によって、網膜色素上皮細胞の細胞死や酸化ストレス耐性におけるKCNJ13遺伝子の機能が明らかになった。この成果は、将来的なレーバー先天盲16型の治療法開発につながる成果であるといえる。本研究の成果を基盤にして、今後はKCNJ13遺伝子の補充や酸化ストレスの抑制がLCA16の病態に及ぼす影響を検討するなど、治療に直結する課題の検討が必要であると考える。