The gene codes for an enzyme that is needed for the changes that apply in the advanced stages of creating a protein called collagen (the most common protein in the body of many animals, including humans). In the absence of an active copy of this gene, the collagen found in the eyeball is not formed in its normal form and the eyeball is longer than normal
A research group led by Prof. Ohad Birak from the Maurice Kahn Laboratory at the National Institute of Biotechnology at Ben-Gurion University of the Negev and the Soroka Medical Center has located the first gene involved in severe myopia - without accompanying defects in other body systems.
Prof. Birk: "This is the LEPREL1 gene, which codes for an enzyme that is needed for the changes that occur in the advanced stages of creating a protein called collagen (the most common protein in the body of many animals, including humans). In the absence of an active copy of this gene, the collagen found in the eyeball is not formed in its normal form and the eyeball is longer than normal. As a result, the light rays are focused in the wrong place, forward to the retina, the distance vision is blurred and myopia appears." According to Prof. Birak, the defective gene was found in a tribe from the Bedouin sector in the Negev, where there is a high prevalence of severe myopia from a young age. As part of the research, the consequences of the mutation were tested in a model system of moth worm cells, and it was shown that the mutation completely prevents the function of the protein, which this gene encodes.
It should be noted that myopia is the most common eye defect in humans. Beyond the visual impairment itself, myopia causes an increased occurrence of additional problems, such as retinal detachment and early onset of cataracts and glaucoma. Myopia is a mainly hereditary trait. Despite decades of extensive research, the genes whose defect causes myopia have not yet been discovered.
Continuing research in the future may find out whether changes or defects in this gene or genes related to it cause myopia in larger populations as well. The main part of the research, funded by the Morris Kahn Foundation, was done by Shikma Mordechai and Dr. Liva Gerdstein from Prof. Ohad Birak's research group, and the findings are published this week in the prestigious American Journal of Human Genetics. Prof. Birak's research group has so far located the molecular basis of more than 15 hereditary diseases in humans, and the research findings are immediately applied to screening and prevention tests in the Arab-Bedouin and Jewish population in Israel and around the world.
One response
The rapid application of this type of research on the Bedouin population is correct, given the high incidence of consanguineous marriages among them and many children born with severe mutations. But separate logic and separate culture: regarding the ability to convince the Bedouin population to avoid consanguineous marriages, there is the following true story: nearly a decade ago, a couple of Bedouin students, a man and a woman who were cousins, studied for a master's degree in biology at Ben Gurion University. Their research project was related to the human genome. Despite being smart and educated people, they got married...
As the scorpion said to the frog, after he stung her when he was sitting on her back, when she helped him cross the river: "I can't control it... it's my nature... (or their culture, in the case of the Bedouins).