Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

Clin Pharmacol Ther. 2007 Jan;81(1):99-103. doi: 10.1038/sj.clpt.6100012.

Abstract

A third of inherited diseases result from premature termination codon mutations. Aminoglycosides have emerged as vanguard pharmacogenetic agents in treating human genetic disorders due to their unique ability to suppress gene translation termination induced by nonsense mutations. In preclinical and pilot clinical studies, this therapeutic approach shows promise in phenotype correction by promoting otherwise defective protein synthesis. The challenge ahead is to maximize efficacy while preventing interaction with normal protein production and function.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aminoglycosides / pharmacology*
  • Aminoglycosides / therapeutic use
  • Animals
  • Codon, Nonsense*
  • Genetic Diseases, Inborn / drug therapy*
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Pharmacogenetics / methods*
  • Protein Modification, Translational / drug effects*

Substances

  • Aminoglycosides
  • Codon, Nonsense