Studies of functional glycans on alfa-dystroglycan associated with congenital muscular dystrophies

2016 Fiscal Year Final Research Report

• Project/Area Number: 26291021
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Functional biochemistry
• Research Institution: Kyoto University
• Principal Investigator: Oka Shogo 京都大学, 医学(系)研究科(研究院), 教授 (60233300)
• Co-Investigator(Kenkyū-buntansha): 竹松 弘 京都大学, 医学(系)研究科(研究院), 准教授 (80324680)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: ジストログリカン / 先天性筋ジストロフィー / O-マンノース型糖鎖 / 糖転移酵素

Outline of Final Research Achievements

α-Dystroglycan (α-DG) is a cell surface glycoprotein that serves as a receptor for extracellular matrix components such as laminin. The α-DG-ligand interaction is mediated by a unique O-mannose-linked glycan attached to α-DG, and the glycosylation deficiency of α-DG causes several forms of congenital muscular dystrophies associated with cobblestone lissencephaly, classified as dystroglycanopathy. In this study, we investigated the regulatory mechanism for the unique O-mannose-linked glycan expression. We also revealed initial pathological events in the developing brain of Pomgnt2-knockout mouse as a dystroglycanopathy model.

Free Research Field

糖鎖生物学、生化学