Biosynthetic pathway of O-mannosyl glycan

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K08262
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Biological pharmacy
• Research Institution: Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology
• Principal Investigator: Endo Tamao 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 副所長 (30168827)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 糖鎖 / O-マンノース / 筋ジストロフィー

Outline of Final Research Achievements

Abnormalities in O-mannosyl glycan cause a group of congenital muscular dystrophies known as dystroglycanopathies. We have identified complete structure of core M3 O-mannosyl glycan. It is a novel structure in mammals containing a newly identified glycan component, ribitol-5-phosphate. In this study, I revealed functions of gene products responsible for dystroglycanopathy, POMGNT1, FKTN, FKRP, and TMEM5. The results are significant findings related to investigation of comprehensive understanding of biosynthetic mechanisms of core M3 glycan. The discovery of new glycan structures and the identification of highly regulated mechanisms of glycan processing will help researchers to understand glycan functions and develop therapeutic strategies for dystroglycanopathies.

Free Research Field

糖鎖生物学

Academic Significance and Societal Importance of the Research Achievements

コアM3糖鎖の欠損は先天性筋ジストロフィー症の原因となることから、本糖鎖の生合成機構および関連酵素の機能が明らかになったことで、難病である筋ジストロフィー症の病態解明および治療法開発への応用が期待される。また、新たな糖鎖構造や糖鎖合成制御機構の発見は、生体における糖鎖の役割の解明に寄与し、学術的にも重要な成果である。