Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

Journal of Neuromuscular Diseases
Motoi Kanagawa, Tatsushi Toda

Abstract

Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at least eighteen genes have been identified that are responsible for dystroglycanopathy, and despite its genetic heterogeneity, its common biochemical feature is abnormal glycosylation of alpha-dystroglycan. Abnormal glycosylation of alpha-dystroglycan reduces its binding activities to ligand proteins, including laminins. In just the last few years, remarkable progress has been made in determining the sugar chain structures and gene functions associated with dystroglycanopathy. The normal sugar chain contains tandem structures of ribitol-phosphate, a pentose alcohol that was previously unknown in humans. The dystroglycanopathy genes fukutin, fukutin-related protein (FKRP), and isoprenoid synthase domain-containing protein (ISPD) encode essential enzymes for the synthesis of this structure: fukutin and FKRP transfer ribitol-phosphate onto sugar chains of alpha-dystroglycan, and ISPD synthesizes CDP-ribitol, a donor substrate for fukutin a...Continue Reading

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Citations

Mar 23, 2019·The Journal of Biological Chemistry·Takahiro NakaneHisashi Narimatsu
Dec 24, 2018·Disease Models & Mechanisms·Alec R Nickolls, Carsten G Bönnemann
May 17, 2019·Essays in Biochemistry·Erhard Hohenester
Nov 18, 2020·Brain & Development·Sara AlharbiKalthoum Tlili-Graiess
Apr 3, 2018·Trends in Genetics : TIG·Bobby G Ng, Hudson H Freeze
May 12, 2021·Neuropathology and Applied Neurobiology·Heike KölbelWerner Stenzel

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Methods Mentioned

BETA
glycosylation
biopsies
transgenic

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