Journal Article

Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function

Susan A.M. Mulders, Baziel G.M. van Engelen, Bé Wieringa and Derick G. Wansink

in Human Molecular Genetics

Volume 19, issue R1, pages R90-R97
Published in print April 2010 | ISSN: 0964-6906
Published online April 2010 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddq161
Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function

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Myotonic dystrophy (DM) is a complex, dominantly inherited, multisystem disorder and the archetypal example of an RNA gain-of-function disease. Unstable expansions of (CTG•CAG)n or (CCTG•CAGG)n repeat tracts in the DMPK and ZNF9 genes cause the two known subtypes of myotonic dystrophy, DM1 and DM2, for which no cure or effective molecular treatment exists. Focus in therapeutic development is currently on toxic, expanded (C/CUG)n RNAs. A series of recent papers provide proof of concept of promising strategies using antisense oligonucleotides or small organic compounds aimed at either complete elimination of expanded (CUG)n RNA transcripts or prevention of detrimental protein binding to thermodynamically stable (C/CUG)n hairpin structures. These developments offer new hope to patients with DM, even though several hurdles still have to be overcome before they can be introduced into clinical practice.

Journal Article.  5244 words.  Illustrated.

Subjects: Genetics and Genomics

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