SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models
Article first published online: 24 FEB 2012
© 2012 New York Academy of Sciences.
Annals of the New York Academy of Sciences
Volume 1250, The Year in Human and Medical Genetics: Inborn Errors of Immunity III pages 33–40, February 2012
How to Cite
Gatti, R. A. (2012), SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models. Annals of the New York Academy of Sciences, 1250: 33–40. doi: 10.1111/j.1749-6632.2012.06467.x
- Issue published online: 24 FEB 2012
- Article first published online: 24 FEB 2012
- SMRT compounds;
- nonsense mutation;
- primary immunodeficiency;
Within less than 10 years after the realization of the double helix of DNA, the ability of aminoglycosides to influence the misreading or readthrough of premature termination codons was discovered. It took another three decades to clone and sequence disease genes and appreciate the similarity of mutation spectra for most inborn errors. Nonsense mutations once again have become the target of readthrough compounds. In this brief review, we trace the development in our laboratory of the next generation of readthrough agents, small molecule readthrough (SMRT) drug-like chemicals, and assays for comparing their in vitro activity. Possible mechanisms of action and potential clinical applications are considered.