Gene discovery could pave way for nearsightedness treatments
London: Researchers at Duke University Medical Center have uncovered a gene linked with myopia or nearsightedness in Caucasian people from several different regions, including Dutch, British and Australian subjects.
The discovery could aid scientists to come up with new treatments for one of the most common eye disorder in the world.
Already, gene therapies are working well in some eye conditions, and myopia may be a good candidate condition for gene repair.
"The eye is already an organ of choice for gene therapy, for example, because the eye`s small volume and self-contained area allow the therapy to remain inside the eye in a concentrated volume," Nature quoted lead author Dr Terri Young as saying.
"In addition, the eye`s accessibility lets clinicians observe the effects of treatment over time with noninvasive methods that can illuminate and test the retina and other eye structures,” he added.
While many cases of myopia are mild, about 2 to 3 percent are pathological cases with retinal detachment, premature glaucoma, macular bleeding, and glaucoma leading eventually to blindness, said Young, who has spent over a decade studying the severe form of myopia.
Working with a large group of researchers, Young found several distinct spellings of DNA code near the RASGRF1 gene that had a strong association with focusing errors in vision.
These findings were validated in six other Caucasian adult groups in a total of 13,414 subjects.
"Because RASGRF1 is highly expressed in neurons and the retina, it is crucial to retinal function and visual memory consolidation," said Young.
When the scientists created mice that were missing the correct gene, these mice showed changes in their eye lenses.
"This was biologically convincing. The RASGRF1 provides a novel molecular mechanism to study so that we can work to prevent the most common cause of visual impairment," said Young.
Young has also led a team that found a different gene -- CTNDD2 -- related to myopia in Chinese and Japanese populations.
The study has been published in Nature Genetics.
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