A Genetic Intervention Stands a Skip Away from Clinical Tests

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Science  14 Dec 2012:
Vol. 338, Issue 6113, pp. 1431-1432
DOI: 10.1126/science.1233074

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Establishing dystrophin as the mutated gene in Duchenne muscular dystrophy (DMD) was arguably the first successful use of genetic information to identify a human disease gene (1). Despite the large investment in the Human Genome Project in the ensuing quarter-century, few therapies have been developed for genetic disorders. Fortunately, this is starting to change for DMD, a condition characterized by loss of functional muscle fibers and progressive muscle weakness and deterioration. Multiple therapies, including gene therapy, gene upregulation, and transcript modification, are in various stages of clinical trials for the disease. One promising approach uses antisense oligonucleotides to induce a process called exon skipping in precursor mRNA (pre-mRNA), and has advanced to phase II clinical trials (2, 3). However, results thus far are below the threshold needed for the therapy to be effective. Kendall et al. now report a class of drugs that increases the efficiency of exon skipping (4). This could prove critical to achieving therapeutic benefit and increases the prospects for using antisense oligonucleotides as a treatment for DMD.