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Journey into muscular dystrophies caused by abnormal glycosylation

Francesco Muntoni1

  • 1Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK. f.muntoni@imperial.ac.uk

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|December 21, 2004
PubMed

Insights

Genetic defects in glycosyltransferases are linked to muscular dystrophies. Abnormal glycosylation of alpha-dystroglycan is a common feature in these disorders, impacting various tissues.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Muscular dystrophies are increasingly associated with genes encoding glycosyltransferases.
  • These genetic defects lead to variable disease severity, from congenital onset with structural abnormalities to adult-onset forms.

Purpose of the Study:

  • To provide an overview of the clinical, biochemical, and genetic aspects of muscular dystrophies linked to glycosyltransferase gene defects.
  • To highlight the common pathway involving alpha-dystroglycan glycosylation.

Main Methods:

  • Review of literature on genetic defects in glycosyltransferases and associated muscular dystrophies.
  • Analysis of clinical, biochemical, and genetic data from affected individuals.
  • Focus on genes like POMT1, POMGnT1, FXRP, Fukutin, LARGE, and GNE.

Main Results:

  • Five genes (POMT1, POMGnT1, FXRP, Fukutin, LARGE) are involved in alpha-dystroglycan glycosylation, and its abnormal glycosylation is a hallmark of related disorders.
  • These include Walker-Warburg syndrome, Muscle-Eye-Brain disease, and various congenital muscular dystrophies.
  • The GNE gene, linked to inclusion body myositis, also encodes a glycosyltransferase, though its substrates are not fully elucidated.

Conclusions:

  • Defects in glycosyltransferase genes represent a significant group of muscular dystrophies.
  • Aberrant glycosylation of alpha-dystroglycan is a unifying molecular mechanism in many of these conditions.
  • Further research into GNE function is warranted.

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