Development of glycosyltransferase replacement therapy for muscular dystrophy caused by alpha-dystroglycanopathy

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461281
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Teikyo University
• Principal Investigator: Saito Fumiaki 帝京大学, 医学部, 准教授 (40286993)
• Co-Investigator(Renkei-kenkyūsha): Matsumura Kiichiro 帝京大学, 医学部, 教授 (50260922)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 筋ジストロフィー / α-ジストログリカノパチー / 福山型先天性筋ジストロフィー / 糖転移酵素 / 酵素補充療法

Outline of Final Research Achievements

α-Dystroglycan (α-DG) stabilizes plasma membrane by binding with laminin via its glycan chain.
Mutations of glycpsyltransferases involved in the glycosylation ofα-DG lead to multi-organ disorders including muscular dystrophy, brain anomaly and eye abnormality, which is called α-dystroglycanopathy. In this study, we conducted basic research to develop glycosyltransferase replacement therapy forα-dystroglycanopathy, which aims to treat the patients by correcting abnormal glycan structure of α-DG with glycpsyltransferases protein. Further, using CRISPR/Cas9 genome editing technology, we established cell culture assay system for the glycosyltransferase replacement therapy, and advocated to use ricin-B subunit as a trafficking tag to the endoplasmic reticurum.

Free Research Field

医歯薬学