Glycobiology of neuromuscular disorders.
There has been a recent explosion in the identification of neuromuscular diseases caused by mutations in genes that affect carbohydrate metabolism or protein glycosylation. A number of these findings relate to defects in the glycosylation of alpha dystroglycan. Alpha dystroglycan is an essential component of the dystrophin-glycoprotein complex, and aberrant glycosylation of alpha dystroglycan is associated with multiple forms of muscular dystrophy in mice and humans. We review the evidence that defects in dystroglycan glycosylation cause muscular dystrophy. In addition, we review evidence that glycobiology is important in other disorders that affect muscle, including hereditary inclusion body myopathy type II and congenital disorders of glycosylation. Finally, we discuss the long-term potential of glycotherapies for muscle disorders.
Department of Neuroscience, Glycobiology Research and Training Center, University of California, San Diego, School of Medicine, La Jolla, CA 92093-0691, USA. pmartin@ucsd.edu
Paul T
PT
Martin
Hudson H
HH
Freeze
D000818:Animals; D003598:Cytoskeletal Proteins / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000628:therapy; D019158:N-Acetylneuraminic Acid / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000151:congenital / Q000378:metabolism* / Q000473:pathology / Q000628:therapy
D003598:Cytoskeletal Proteins; D006023:Glycoproteins; D019158:N-Acetylneuraminic Acid