MYOTONIC DYSTROPHIES: GENETICALLY-BASED DISEASES DUE TO TOXIC RNA


Published: gennaio 24, 2014
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  • Carlo Pellicciari Dipartimento di Biologia e Biotecnologie "Lazzaro Spallanzani", Laboratorio di Biologia Cellulare e Neurobiologia, Università degli Studi di Pavia, Italy.
Myotonic dystrophies (DMs, the second most diffuse forms of muscular dystrophy, after Duchenne dystrophy) are genetically-based degenerative neuromuscular diseases exhibiting widely variable clinical features and characterized by myotonia (i.e., a prolonged contraction of skeletal muscles after short stimulation) and a delayed muscle relaxation after voluntary contraction. There are two form of DMs: the more severe DM1 (or Steinert’s disease), and the milder form DM2. The intranuclear accumulation of expanded RNAs is considered as the pathogenetic factor of DMs: the presence of these RNAs exerts a toxic action on cell function which essentially depends on the ectopic sequestration of nuclear protein factors involved in the processing of transcripts. The aim of this mini-symposium is to describe the genetic and cellular bases of DMs, showing how the results of basic research may provide important clues for both diagnosis and therapy.

Pellicciari, C. (2014). MYOTONIC DYSTROPHIES: GENETICALLY-BASED DISEASES DUE TO TOXIC RNA. Istituto Lombardo - Accademia Di Scienze E Lettere • Incontri Di Studio, 5–8. https://doi.org/10.4081/incontri.2012.57

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