Gene that leads to myopia identified

Washington: Scientists have identified a gene whose mutation leads to myopia or nearsightedness.

The gene, LEPREL1, was identified in studies conducted within a southern Israeli Beduin tribe led by Prof. Ohad Birk of the Morris Kahn Laboratory of Human Genetics at the Ben-Gurion University of the Negev.

“We are finally beginning to understand at a molecular level why nearsightedness occurs,” said Birk.

Nearsightedness is known to be a hereditary trait, leading to a higher incidence of other secondary eye disorders, such as retinal detachment, macular degeneration, as well as early onset glaucoma and cataracts.

However, no gene has yet been found as the specific link to its development.

Birk and his team studied the defective gene among myopic members of the tribe and found that LEPREL1 encodes an enzyme that is essential for the final modification of collagen in the eye.

In the absence of the active enzyme, an abnormal modification of collagen is formed, causing the eyeball to be longer than normal.

As a consequence, light enters the eye’s focal point in front of the retina rather than on the retina itself. Leading to myopia.

The researchers have called for further studies to determine whether LEPREL1 or its related genes play a significant role in the causation of myopia in the population at large as well.

The finding appears online in the American Journal of Human Genetics.


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