Researchers at a university in Israel claim to have found the genetic defect that leads to myopia, additionally referred to as nearsightedness.
A team of scientists from Ben-Gurion University from the Negev (BGU), led by Professor Ohad Birk, are convinced that they discovered a mutation occurring in LEPREL1, a protein-coding gene type, “specifically causes myopia,” based on a Thursday pr 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 also the Dayan Clinical Genetics Wing at Soroka University Medical Center, and was detailed within an article published in the September 1 edition from the American Journal of Human Genetics (AJHG).
“We’re finally starting to understand at a molecular level why nearsightedness occurs,” Birk said inside a statement.
Referred to within the BGU release as “the most typical eye disorder” and “a substantial public health concern,” nearsightedness was from the defective LEPREL1 gene as part of a “thorough study of severe early-onset myopia that’s common inside a specific Bedouin tribe in southern Israel.”
“The gene, LEPREL1, encodes an enzyme that’s required for the final modification of collagen within the eye,” the university said. “Even without the the active form of this enzyme, aberrant collagen is formed, causing the human eyeball to be more than normal. As a result, light beams entering the eyeball concentrate front from the retina rather than on the retina itself and myopia emerges.”
“As part of the research as well as in collaboration having a Finnish group, studies in a model system using insect cells demonstrated that the mutation is detrimental to the enzymatic activity from the gene,” they added.
Birk’s team, who worked alongside several researchers from Finland around the project, intend to conduct future studies to find out whether or not this gene, or others similar to LEPREL1, play a “significant” role in causing nearsightedness “within the population in particular.” Their findings can lead to improved screening and prevention for the eye condition, they claim.