Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.

ABSTRACT: Inherited metabolic diseases (IMDs) belong to the group of rare diseases due to their low individual prevalence. Most of them are inherited in autosomal recessive fashion and represent good candidates for novel therapeutical strategies aimed at recovering partial enzyme function as they lack an effective treatment, and small levels of enzymatic activity have been shown to be associated with improved outcome and milder phenotypes. Recently, a novel therapeutic approach for genetic diseases has emerged, based on the ability of aminoglycosides and other compounds in allowing translation to proceed through a premature termination codon introduced by a nonsense mutation, which frequently constitute a significant fraction of the mutant alleles in a population. In this review we summarize the ess

SUBMITTER: Perez B 

PROVIDER: S-EPMC3531923 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature