Gene discovery could yield treatments for nearsightedness

WASHINGTON, Sept. 12 (Xinhua) -- Myopia (nearsightedness) is the most common eye disorder in the world and becoming more common, yet little is known about its genetic underpinnings. Scientists at Duke University Medical Center, in conjunction with several other groups, have uncovered a gene associated with myopia in Caucasian people from several different regions, including Dutch, British and Australian subjects.

Their work was published in Nature Genetics online on Sunday.

Myopia happens when the focal point of an image falls just short of the retina at the rear of the eye, causing blurred distance vision. Often the discovery of a gene still means that many years could pass before a treatment becomes available. However, gene therapies are already working well in some eye conditions, and myopia may be a good candidate condition for gene repair.

Working with a large group of researchers, lead author Terri Young, professor of ophthalmology, pediatrics, and medicine at Duke and colleagues 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, " Young said.

When the scientists created mice that were missing the correct gene, these mice showed changes in their eye lenses.

"This was biologically convincing," Young said. "The RASGRF1 provides a novel molecular mechanism to study so that we can work to prevent the most common cause of visual impairment."

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