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Research Suggests Nonsense Suppression Drug Restores Function in a Mouse Model of Aniridia

by Kathy Jones on December 23, 2013 at 8:06 PM
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 Research Suggests Nonsense Suppression Drug Restores Function in a Mouse Model of Aniridia

Congenital aniridia is a condition that causes improper development of eye structures as well as abnormalities in the brain and pancreas.

A variety of nonsense mutations in the PAX6 gene are linked with aniridia; however, despite understanding the genetic basis of the disease, few treatment and prevention strategies are available. In this issue of the Journal of Clinical Investigation, Cheryl Gregory-Evans and colleagues at the University of British Columbia evaluated a small molecule nonsense suppression strategy for relief of aniridia-associated defects in a mouse model of the disease. The authors developed a formulation of the nonsense suppression drug ataluren that could be given topically to postnatal aniridia mice. Administration of their ataluren-based formulation inhibited disease progression, reversed eye deformations, and restored eye function in aniridia mice. In an accompanying commentary, José-Alain Sahel and Katia Marazova of the Institut de la Vision suggest that ataluren administration should be further explored as a therapeutic option for treatment of congenital eye defects associated with nonsense mutations.

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Source: Eurekalert

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