Pharmacological modulation of the retinal unfolded protein response in bardet-biedl syndrome reduces apoptosis and preserves light detection ability

Abstract

Background: Retinal degeneration is a main feature of Bardet-Biedl syndrome for which the mechanism causing photoreceptor cell apoptosis remains elusive. Results: Apoptosis is caused by protein accumulation in the photoreceptor inner segment activating an unfolded protein response. Conclusion: Pharmacological reduction of apoptosis preserves light detection ability. Significance: This therapeutic approach could be used to slow the degeneration and is potentially applicable to other ciliopathies. © 2012 by The American Society for Biochemistry and Molecular Biology, Inc.