Date: 30 Oct 2009

Recoding Therapies for Genetic Diseases

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Abstract

Strategies aimed at recoding premature stop mutations or frameshift mutations have the potential to treat a genotypic subset of patients afflicted with many different genetic diseases. In this chapter we provide an overview of approaches to promote readthrough of premature stop mutations, including pharmacological agents and suppressor tRNAs. We also describe the use of oligonucleotides to induce differential splicing to exclude disease-causing mutations or to induce site-specific frameshifting as a method of recoding mutations that alter the ribosomal reading frame. Finally, we discuss issues that could complicate the success of these approaches, such as toxicity or nonsense-mediated mRNA decay. Ultimately, these therapies have the potential to be uniquely tailored to a particular patient to optimize the therapeutic effect. Based upon recent progress in this field, one or more of these therapeutic recoding strategies could be used to treat individuals with one or more genetic diseases within the next few years.