Experts pave way for blindness treatment

Experts pave way for blindness treatment

By Adrian Galbreth

Treating blindness has been at the top of scientists' agendas for decades, with various new therapies being formulated across the world every year, though often without success.

However, a new study being carried out by experts in the US could lead to the formulation of new treatments that could help to stunt the growth of stargardt macular dystrophy, a genetic disease that causes juvenile blindness.

In the most common form of stargardt macular dystrophy, a mutation occurs in the ABCA4 gene, which encodes for a protein that is expressed in the eye's photoreceptor cells and is required for the removal of lipofuscin, a toxic byproduct of the visual metabolic cycle.

In patients with mutant ABCA4, lipofuscin accumulates in the photoreceptors, leading to retinal degeneration.

However, experts have noted that the placement of the defective ABCA4 gene could rescue the photoreceptors and provide a cure for the conditions and help to reduce the number of lives being impacted by the debilitating disease.

In a recent issue of the Journal of Clinical Investigation, a research team at the University of Oklahoma Health Sciences Center in Oklahoma City described a new method to replace the ABCA4 gene in mice.

Experts led by Muna Naash injected a DNA nanoparticle encoding ABCA4 directly into the retinas of the mice.

The subjects had detectable levels of ABCA4 for up to eight months and had improved visual responses compared to untreated animals, the study authors report.

"These studies demonstrate that DNA nanoparticles may be a useful technology in the treatment of genetic diseases," they added.

Recently, scientists from the Massachusetts Eye and Ear Infirmary reported that they have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but damaging form of early-onset blindness, which could lead to new therapies.

by Alexa Kaczka

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