Nonsense suppression drug restores function in a mouse model of aniridia

Congenital aniridia is a progressive disease that is associated with 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 .

More information: Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects, J Clin Invest. DOI: 10.1172/JCI70462
Toward postnatal reversal of ocular congenital malformations, J Clin Invest. 2014;124(1):81–84. DOI: 10.1172/JCI73560

add to favorites email to friend print save as pdf

Related Stories

Scientists use drug to repair rare birth defect

Dec 20, 2013

University of British Columbia and Vancouver Coastal Health scientists have developed a potential cure for a rare eye disease, showing for the first time that a drug can repair a birth defect.

Rare eye disease leaves people without an iris

Aug 02, 2013

(HealthDay)—You may never have heard of aniridia, a genetic disorder that robs people of their vision. But researchers studying the condition say it could give insight into some common health problems—from ...

New finding in rare eye disease

Jul 14, 2008

(PhysOrg.com) -- Researchers have made a finding which could pave the way for new treatments for sufferers of a rare eye disease which can lead to blindness.

Recommended for you

Changes in scores of genes contribute to autism risk

Oct 29, 2014

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium (ASC), and published today in the journal Nature.

Dozens of genes associated with autism in new research

Oct 29, 2014

Two major genetic studies of autism, led in part by UC San Francisco scientists and involving more than 50 laboratories worldwide, have newly implicated dozens of genes in the disorder. The research shows ...

Genetic link to kidney stones identified

Oct 29, 2014

A new breakthrough could help kidney stone sufferers get an exact diagnosis and specific treatment after genetic links to the condition were identified.

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.