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, Josť-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.
TITLE: Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
AUTHOR CONTACT: Cheryl Gregory-Evans
University of British Columbia, Vancouver, BC, CAN
Phone: 604-875-5529; Fax: 604-875-4663; E-mail: firstname.lastname@example.org
View this article at: http://www.jci.org/articles/view/70462?key=f3d20cd7e7397c048ea0
TITLE: Toward postnatal reversal of ocular congenital malformations
AUTHOR CONTACT: Jose-Alain Sahel
The French National Center, Paris Cedex 12, UNK, FRA
Phone: +33608643841 (cell); Fax: +33140021499; E-mail: email@example.com
View this article at: http://www.jci.org/articles/view/73560?key=e350629cb164faec9c64
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