Eur J Med Genet 2006 Nov-Dec;49(6):445-50. Epub 2006 May 19.
Department of Medical Genetics and Child Development, University of Pécs, József A. u. 7., 7623 Pécs, Hungary.
The treatment of genetic disorders is one of the biggest challenges lying ahead of modern medicine. While major advancements have been made in gene therapy, it is still far from achieving clinical success. However, other potential methods for treating single gene related diseases have also emerged recently. One such approach is the suppression of pathogenic nonsense mutations through inducing translational readthrough of the in-frame premature stop mutation. Aminoglycosides were the first drugs that gave promising results in this respect. This report provides a brief overview on the past, present and potential future of this pharmacogenetic approach.