Protein discovery may lead to prevention of blindness

Boston-A protein has been identified that appears to prolong the lives of retinal cells in both healthy and diseased eyes, according to researchers. This discovery could possibly lead to treatments that would prevent blindness among people genetically predisposed to develop retinal disease.

The protein, histone deacetylase 4 (HDAC4), is naturally produced by both mice and humans and is involved in the regulation of bone and muscle development.

Reduction of the HDAC4 to below-normal levels seems to lead to premature photoreceptor cell death in healthy eyes, researchers said. Increasing quantities of this protein, however, to above-normal levels appears to protect the lifespan of these vision cells, according to the study.

"There are some inherited genetic defects that lead to the death of the two types of photoreceptor cells in the eye that capture light, first directly killing the rod cells and then the cone cells, which depend on rod cell survival," said study author Bo Chen, a postdoctoral research fellow with the Howard Hughes Medical Institute at Harvard Medical School in Boston. "So, this mutation eventually leads to complete blindness."

"But what we found," Chen said, "is that we could actually promote the survival of these genetically affected photoreceptors by introducing more of this particular protein, even though the photoreceptors themselves continue to remain genetically defective.”