Possible Genetic Cause Of Myopia Discovered


Researchers at a university in Israel claim to have discovered the genetic defect that results in myopia, more commonly known as nearsightedness.

A team of scientists from Ben-Gurion University of the Negev (BGU), led by Professor Ohad Birk, report that they discovered a mutation occurring in LEPREL1, a protein-coding gene type, “specifically causes myopia,” according to a Thursday press release from the school.

The research was completed at BGU’s Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev and the Dayan Clinical Genetics Wing at Soroka University Medical Center, and was detailed in an article published in the September 1 edition of the American Journal of Human Genetics (AJHG).

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

Referred to in the BGU release as “the most common human eye disorder” and “a significant public health concern,” nearsightedness was linked to the defective LEPREL1 gene as part of a “thorough study of severe early-onset myopia that is common in a specific Bedouin tribe in southern Israel.”

“The gene, LEPREL1, encodes an enzyme that is essential for the final modification of collagen in the eye,” the university said. “In the absence of the active form of this enzyme, aberrant collagen is formed, causing the human eyeball to be longer than normal. As a consequence, light beams entering the eyeball focus in front of the retina rather than on the retina itself and myopia emerges.”

“As part of the research and in collaboration with a Finnish group, studies in a model system using insect cells demonstrated that the mutation is detrimental to the enzymatic activity of the gene,” they added.

Birk’s team, who worked alongside a group of researchers from Finland on the project, plan to conduct future studies to determine whether or not this gene, or others similar to LEPREL1, play a “significant” role in causing nearsightedness “in the population at large.” Their findings could lead to improved screening and prevention for the eye condition, they claim.

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