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Home Ophthalmic insights Research

Genes from archaea used to prevent blindness

by Callum Glennen
January 7, 2020
in Research
Reading Time: 2 mins read
A A
Maxim Sokolov

Maxim Sokolov

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By combining archaea and mammal DNA, researchers are hoping to ‘bypass evolution’ and give people genes that would allow them to resist retinal degeneration.

A new project underway at West Virginia University (WVU) is looking at the proteins produced by single-cell organisms called archaea that help them survive in harsh conditions. Particular proteins in archaea cells, called molecular chaperones, guide other proteins through the folding process which allows the organism to survive in environments including hydrothermal pools and digestive systems.

“[Molecular chaperones] embrace the baby proteins and help them to fold correctly,” Associate Professor Maxim Sokolov, WVU School of Medicine, said. “And if the baby proteins fold incorrectly, the chaperones will unfold them and say, ‘fold again.'”

It is hoped that giving human cells this capacity could lead to a treatment for several incurable eye diseases, such as retinitis pigmentosa. By stopping the accumulation of misfolded proteins in the eye, photoreceptors would be prevented from being killed.

The method is being tested in mouse models, where archaeal genes will be used to instruct mouse cells to produce molecular chaperones that would otherwise not be made naturally.

“You bypass evolution,” Sokolov said. “All of a sudden, this chaperone that’s not present in mammals – not just mice but mammals – is there. But you don’t know what will happen. This is where you start to do research.”

If the procedure is successful and the newly developed molecular chaperones protect the mice’s eyes, the team believes the technique could be used to treat other conditions that involve misfolded proteins, such as Alzheimer’s and Parkinson’s diseases.

“There are diseases in the brain, and there is this disease called aging,” Sokolov said. “We’ve used the eye as the model, but I’ll be interested to look much, much wider than that.”

The team recently received US$1.5 million (AU$2.2 m) from the US National Institutes of Health to fund their research.

Tags: archaeaDNAgeneticretinal degeneration

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