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Muscular dystrophy

A LARGE dose of sugar

Nature Reviews Drug Discovery volume 3, page 552 (2004)Cite this article

Muscular dystrophies are a group of genetic disorders that are characterized by progressive weakening and wasting of muscles. In a subset of congenital muscular dystrophies (CMD), mutations in genes that encode glycosyltransferase enzymes, which add sugars to proteins, lead to muscle degeneration and defects in brain development. In these disorders, α-dystroglycan, which is normally heavily glycosylated, lacks its sugars and is unable to bind its ligands in the extracellular matrix. The disruption of this crucial link between the inside and outside of muscle cells is thought to make the cells more vulnerable to stress-induced damage.

In the Cell paper, experiments showed that an interaction between LARGE and α-dystroglycan is crucial for the production of functional, glycosylated α-dystroglycan and therefore the maintenance of healthy muscle. In their Nature Medicine paper, Campbell and colleagues used LARGE to investigate whether restoring glycosyltransferase activity in CMD could prevent the defects associated with this subset of muscular dystrophies.

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ORIGINAL RESEARCH PAPERS

  1. Barresi, R. et al. LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nature Med. 6 June 2004 (doi: 10.1038/nm1059)

  2. Kanagawa, M. et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 3 June 2004 (doi: 101016/S0092867404005434)

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Authors
  1. Clare Ellis
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Ellis, C. A LARGE dose of sugar. Nat Rev Drug Discov 3, 552 (2004). https://doi.org/10.1038/nrd1455

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  • DOI: https://doi.org/10.1038/nrd1455

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