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Toxic DNA Buildup May Drive Macular Degeneration

September 30, 2021
Jayakrishna Ambati, M.D.

Jayakrishna Ambati, MD, has discovered damaging DNA buildup in the eyes of patients with an advanced form of macular degeneration.

Damaging DNA builds up in the eyes of patients with geographic atrophy, an untreatable, poorly understood form of age-related macular degeneration that causes blindness, new research from the University of Virginia School of Medicine reveals. Based on the discovery, the researchers think it may be possible to treat the disease with common HIV drugs or an even safer alternative.

The harmful DNA, known as Alu cDNA, was previously discovered to be manufactured in the cytoplasm by UVA’s Jayakrishna Ambati, MD, and his collaborators. The new findings are believed to be the first time toxic Alu cDNA accumulation has been confirmed in patients in any disease.

The new findings offer insights into how geographic atrophy progresses over time. “Although we’ve known that geographic atrophy expands over time, we didn’t know how or why,” said Ambati, of UVA’s Department of Ophthalmology and Center for Advanced Vision Science. “Our finding in human eyes that the levels of toxic Alu cDNA are highest at the leading edge of the geographic atrophy lesion provides strong evidence that it is responsible for this expansion over time that leads to vision loss.”