Elucidation of molecular pathogenesis and development of treatment for muscular dystrophy and neurodevelopmental disorder caused by abnormal glycosylation

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The structure of the O-Man type glycan ofα-dystroglycan is still unknown in spite of our many efforts for mass spectrometry. We found that some known proteins involved in the O-Man type glycan synthesis are bound to one another and we are searching for other unknown binding molecules. We showed potential in vivo of the gene therapy by adeno-associaterd viral vector and the antisense therapy for the SVA insertion mutation as treatments ofα-DGpathy. We successfully made central nervous system-specific fukutin-deficient mice, and observed abnormality of the brain.