Revisão Acesso aberto Revisado por pares

Myotonic dystrophy: approach to therapy

2017; Elsevier BV; Volume: 44; Linguagem: Inglês

10.1016/j.gde.2017.03.007

ISSN

1879-0380

Autores

Charles A. Thornton, Eric T. Wang, Ellie M. Carrell,

Tópico(s)

Parkinson's Disease Mechanisms and Treatments

Resumo

Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet repeat in DMPK, whereas DM type 2 is caused by expansion of a CCTG tetramer repeat in CNBP. In both cases the DM mutations lead to expression of dominant-acting RNAs. Studies of RNA toxicity have now revealed novel mechanisms and new therapeutic targets. Preclinical data have suggested that RNA dominance is responsive to therapeutic intervention and that DM therapy can be approached at several different levels. Here we review recent efforts to alleviate RNA toxicity in DM.

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