Protein-unfolding Chaperones for the Treatment of Blindness

NIH RePORTER · NIH · R01 · $368,600 · view on reporter.nih.gov ↗

Abstract

PROJECT SUMMARY/ABSTRACT The goal of this project is to develop a novel therapeutic application that utilizes a protein unfolding ATPase for the treatment of inherited retinal dystrophies, including retinitis pigmentosa. This strategy is based on the premise that many of these genetically diverse hereditary diseases, which are characterized by the slow impending death of photoreceptor neurons, nevertheless, share a common etiology from the cytotoxicity of proteins misfolded as a result of mutations. To counteract this toxicity, we have genetically introduced a protein-unfolding ATPase from Archaea into the retinal rod photoreceptors of mice for the purpose of purging misfolded proteins. To test our hypothesis and attain our proposed research goals, the following three Specific Aims have been identified in this proposal. In Specific Aim 1 we will investigate the mechanism whereby the archaeal chaperone protects mouse photoreceptors from cytotoxic misfolded proteins. Specific Aim 2 of the proposed studies will ascertain the effectiveness of this intervention to avert the progression of retinal degeneration in two established RP mouse models. The focus of Specific Aim 3 is testing the therapeutic potential of a viral vector that enables the delivery of the protein unfolding ATPase into photoreceptor cells. These studies, to be conducted in mice, will be part of the first step toward developing a similar therapeutic application against retinitis pigmentosa in human patients.

Key facts

NIH application ID
10162605
Project number
5R01EY030050-03
Recipient
WEST VIRGINIA UNIVERSITY
Principal Investigator
MAXIM SOKOLOV
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$368,600
Award type
5
Project period
2019-06-01 → 2023-05-31