22.11.2016

Researchers In Manchester Discover Genetic Mutations in a Specific Strand of Macular Degeneration

 Researchers In Manchester Discover Genetic Mutations in a Specific Strand of Macular Degeneration

British scientists have just discovered two genetic mutations that directly trigger a certain kind of macular degeneration prevalent in men. These researchers are very hopeful that their work will help eye doctors formulate new therapies to help treat this specific strand of macular degeneration.

This research was compiled at the prestigious University of Manchester The disease these researchers focused on was X-linked Retinoschisis (XLRS), which is a specific genetic mutation that affects the patient's retinae. This disease actually forms deep within the retinae and can cause them to split over time. If not caught early enough by a trained physician, this disease can lead to blindness within a few months.

Researchers discovered that XLRS is formed by mutations within the retinal protein retinoschisin. This protein is actually linked to a vital role within the overall cellular organization within the retinae. The professors noted that retinoschisin forms paired octametric rings in each eye, which they likened to 8-bladed propellers. This information was crucial to understanding both how the retinoschisin operates in a normal eye and how it mutates in the eye of an XLRS patient.

The British researchers used a special cryo-electron microscope to look deeper into these paired rings. As they observed the rings in their mutated form, the professors noted that the disease-causing mutation was both on the interface between the octamer rings and right on the tip of the ring. They believe that these mutations directly cause the retinoschisin to act less stable in an XLRS patient's eyes.

Scientists are hopeful that this information can lead to a potential cure in the ensuing months and years. These researchers believe that they can expand on these findings to discover novel gene therapies to hopefully cure XLRS once and for all.

XLRS specifically damages the retinae in a patient's eyes. This genetic disorder specifically targets the maculae, which are located right in the center of the retinae and are crucial for intensive tasks like recognizing faces, driving, and reading.

Cases of XLRS are generally only found in males, and this disease is typically discovered when a boy is very young. Often XLRS is discovered when a boy has very hazy vision and often has to squint at school. Sometimes XLRS can even be detected in infants. It is currently estimated that 1 in 5,000 to 25,000 men have XLRS worldwide. About 1 in 5,000 British men go blind from this disease.

Currently, there are no known cures for XLRS disease. Doctors usually use a combination of drug therapies, palliative care, and genetic counseling to manage this serious condition.


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