Dr. Gladys Ko’s research offers the hope of vision for men suffering from certain types of genetic eye disorders. The Texas A&M University researcher believes she has unlocked the underlying genetic causes of two disorders—XLRS and XLCSNB—that result in blindness in men.
While XLRS (X-linked retinoschisis) results in an early onset of macular degeneration leading to blindness, XLCSNB (X-linked congenital stationary night blindness) causes night blindness, notes Dr. Gladys Ko, a professor in the Texas A&M College of Veterinary Medicine and Biomedical Sciences. Ko and her co-workers have published their results of the study in the “Journal of Biological Chemistry.”
Patients with XLRS have genetic mutations in retinoschisin, a protein essential for proper retinal structure, while XLCSNB patients have mutations on one specific type of calcium channels present in the retina, she explains. The disorders, XLRS and XLCSNB, only occur in men.
“One in 2500 to one in 5000 men suffer from XLRS and XLCSNB,” says Ko, whose research focus includes studying how the circadian rhythm (internal body clock) regulates eye functions.
“Curiously, however, the electroretinogram recordings from patients suffering from either one of the diseases were similar, so we think there could be a functional link between retinoschisin and the calcium channels,” says Ko, an assistant professor in the Department of Veterinary Integrative Biosciences.
On further investigation, Ko and her co-workers found there is a physical interaction between the protein retinoschisin and a subunit of the calcium channel. Therefore, retinoschisin and calcium channels need to interact correctly so that the photoreceptor cells in the eye can function properly, Ko explained.
The study was carried out using chicken retinas, but Ko says the results can be translated to humans because the retinoschisin gene in chicks and humans are similar. Ko emphasizes, however, that although she and her fellow researchers now have a better understanding of the disease mechanism, considerable work needs to be done before suggesting treatment approaches.
About research at Texas A&M University: As one of the world’s leading research institutions, Texas A&M is in the vanguard in making significant contributions to the storehouse of knowledge, including that of science and technology. Research conducted at Texas A&M represents an annual investment of more than $582 million, which ranks third nationally for universities without a medical school, and underwrites approximately 3,500 sponsored projects. That research creates new knowledge that provides basic, fundamental and applied contributions resulting in many cases in economic benefits to the state, nation and world.
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