1. [Current studies in myotonic dystrophy].
- Author
-
Zhao Y and Ishiura S
- Subjects
- Humans, Introns, Mutation, Myotonic Dystrophy diagnosis, Myotonic Dystrophy genetics, Protein Serine-Threonine Kinases genetics, Protein Serine-Threonine Kinases metabolism, RNA metabolism, Myotonic Dystrophy etiology, Myotonic Dystrophy therapy
- Abstract
Myotonic dystrophy (DM) is a genetic, progressive, multisystemic disease with muscular disorder as its primary symptom. There are two types of DM (DM1 and DM2) caused by mutations in different genes, and in Japan, DM occurs with an incidence of approximately 1 in 20,000. The pathogenic mechanism underlying the disease is RNA toxicity caused by transcripts of aberrantly elongated CTG or CCTG repeats located in the 3' untranslated region or in the intron. The current treatments for DM is limited to symptomatic care. In this review, we will discuss several new therapeutic strategies based on recent studies of RNA toxicity.
- Published
- 2014