Identify the gene that causes myopia

The defective gene encodes an enzyme essential for the final modification of collagen in the eye

A group of researchers from Ben-Gurion University of the Negev (Israel), directed by Professor Ohad Birk, has identified a gene defect that causes myopia or near vision. In the article, published in the "American Journal of Human Genetics," Birk and his team show that a mutation in the gene LEPREL1 cause myopia. "We're finally beginning to understand at the molecular level, why myopia occurs," says Professor Birk. The discovery was conducted through collaboration Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev and Clinical Genetics Dayan Wing Soroka University. Myopia is the most common disorder of the human eye and is mainly an inherited trait. Besides being a public health problem, nearsightedness also leads to an increased incidence of other eye conditions such as retinal detachment, macular degeneration and early onset of glaucoma and cataracts. Despite decades of intensive research, the specific genes that lead to myopia have remained elusive .

The defective gene was identified in a study of early-onset myopia, common in a certain tribe of Bedouins in southern Israel. As part of the investigation, and in collaboration with a group of researchers in Finland, studies, using a model that used insect cells, have shown that the above-mentioned mutation is detrimental to the enzymatic activity of the gene .

The gene encodes an enzyme essential LEPREL1 for final modification of collagen in the eye. In the absence of the active form of this enzyme, the collagen does not form properly, causing the human eyeball is longer than normal. As a result, light rays entering the eye, focus on the front of the retina and not in the same retina, causing nearsightedness. Future studies will determine if LEPREL1, or other related genes also play an important role in the genesis of myopia in the general population.

Professor Birk's group described so far, the molecular mechanisms that lead to more than 15 human diseases, these results have been applied to mass screening and prevention programs.