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2022 Fiscal Year Final Research Report

Is an eye-specific transcript revealed by comprehensive expression analysis a novel key player in corneal regeneration?

Research Project

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Project/Area Number 19K09993
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 56060:Ophthalmology-related
Research InstitutionNagasaki University

Principal Investigator

KINOSHITA Akira  長崎大学, 原爆後障害医療研究所, 准教授 (60372778)

Co-Investigator(Kenkyū-buntansha) 小路 武彦  長崎大学, 医歯薬学総合研究科(医学系), 客員研究員 (30170179)
Project Period (FY) 2019-04-01 – 2023-03-31
KeywordsGillespie症候群 / 無虹彩 / イノシトール1,4,5三リン酸受容体I型 / 神経堤細胞 / 角膜内皮 / アクチン繊維 / フォーカルアドヒージョン / YAP
Outline of Final Research Achievements

Gillespie syndrome (GLSP) is a rare genetic disorder characterized by cerebellar ataxia and aniridia. The GLSP-responsible gene is ITPR1 encoding a calcium channel; however, the reason for the patient with GLSP developing aniridia was unknown.
RNA-seq was performed using next-generation sequencing, and the ocular-specific novel transcript of Itpr1, which encodes an Itpr1 isoform of 218 amino acid residues, was found. This protein regulates actin fiber tension and direction and promotes nuclear translocation of the transcription coactivator YAP. This study revealed that system failure caused by GLSP mutation disrupts the differentiation of the iris and cornea tissues derived from neural crest cells, resulting in aniridia.

Free Research Field

人類遺伝学

Academic Significance and Societal Importance of the Research Achievements

ヒトの五感の中で最も多くの情報を得ているのが視覚であり、視力障害は日常生活に大きな影響を与えQOLを著しく低下させる。そのため角膜再生とその移植治療は大きな需要がある。新たに同定した眼特異的ITPR1アイソフォームは神経堤細胞から角膜内皮および角膜ストロマの分化に必須なタンパク質をコードしていることを本研究では明らかにした。このタンパク質を利用することにより、より効率的な角膜再生法が期待できる。

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Published: 2024-01-30  

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