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Genetics and molecular pathogenesis of the myotonic dystrophies

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Abstract

Pathogenic repeat expansions were initially identified as causing either a loss of gene product, such as in fragile X mental retardation, or an expansion of a polyglutamine region of a protein, as was first shown in spinobulbar muscular atrophy (Kennedy’s disease). The pathogenic effect of the repeat expansion in myotonic dystrophy type 1, however, has been controversial because it does not encode a protein but nonetheless results in a highly penetrant dominant disease. Clinical and molecular characterization of myotonic dystrophy types 1 and 2 have now demonstrated a novel disease mechanism involving pathogenic effects of repeat expansions that are expressed in RNA but are not translated into protein.

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Authors and Affiliations

  1. Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, 55455, Minneapolis, MN, USA

    John W. Day MD, PhD

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  1. John W. Day MD, PhD
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  2. Laura P. W. Ranum PhD
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Day, J.W., Ranum, L.P.W. Genetics and molecular pathogenesis of the myotonic dystrophies. Curr Neurol Neurosci Rep 5, 55–60 (2005). https://doi.org/10.1007/s11910-005-0024-1

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