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Exon‐skipping therapy for Duchenne muscular dystrophy
Author(s) -
Nakamura Akinori,
Takeda Shin'ichi
Publication year - 2009
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2009.01028.x
Subject(s) - exon skipping , duchenne muscular dystrophy , exon , dystrophin , medicine , mutation , muscular dystrophy , phenotype , genetic enhancement , bioinformatics , genetics , biology , gene , alternative splicing
Duchenne muscular dystrophy (DMD) is a lethal muscle disorder caused by mutations in the DMD gene for which no mutation‐targeted therapy has been available thus far. However, exon‐skipping mediated by antisense oligonucleotides (AOs), which are short single‐strand DNAs, has considerable potential for DMD therapy, and clinical trials in DMD patients are currently underway. This exon‐skipping therapy changes an out‐of‐frame mutation into an in‐frame mutation, aiming at conversion of a severe DMD phenotype into a mild phenotype by restoration of truncated dystrophin expression. Recently, stable and less‐toxic AOs have been developed, and their higher efficacy was confirmed in mice and dog models of DMD. In this review, we briefly summarize the genetic basis of DMD and the potential and perspectives of exon skipping as a promising therapy for this disease.