A Ben-Gurion University of the Negev professor and his research team have
pinpointed a gene whose mutation leads in certain populations to myopia,
nearsightedness, the most common human eye disorder and cause of many secondary
eye disorders, the university announced Wednesday.
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 BGU’s
National Institute for Biotechnology and the Dayan clinical genetics wing at
Soroka University Medical Center, with principle research performed by Shikma
Levin and Dr. Libe Gradstein, a statement from the university said.
myopia is known to be a hereditary trait, leading to other disorders like
retinal detachment, macular degeneration, cataracts and early onset glaucoma, no
gene has yet been found as the specific link to its development, according to
“People from that tribe came into the ophthalmology
department with severe myopia at an early age, Birk told The Jerusalem Post
Wednesday evening, noting that about one-third or one-fourth of the tribe’s
members exhibit the disorder, and at “very severe” levels. “We figured that
something unique was going on there.”
Birk’s team studied the defective
gene among myopic members of the tribe and discovered that within LEPREL1, which
encodes an enzyme necessary to modifying collagen after it is fully formed, a
mutation can inhibit the presence of the active form of this enzyme, the
university said. Due to the lack of the active enzyme, an abnormal modification
of collagen arises, causing the eye to become longer than is typical and thereby
allowing light to enter the eye’s focal point in front of the retina instead of
on the retina itself, leading to nearsightedness.
“We are finally
beginning to understand at a molecular level why nearsightedness occurs,” Birk
said in the statement.
A manuscript of the group’s research appeared on
Thursday in the American Journal of Human Genetics. Future studies will
determine whether the mutation in LEPREL1 also leads to myopia in the general
population, the university said.
“We will probably collaborate with
people all over the world,” Birk told the Post, noting they would make use of
gene banks of different populations everywhere.
While he cannot yet be
certain, Birk said he expects to see myopia linked to this gene in some other
populations, at least in mild cases of the disorder.
no type of medicine can currently repair the defect, he said that having a
better understanding of the genetic link could potentially lead to remedies
“I don’t know yet what we can do with this, but it’s
interesting in the sense that it is the first gene-formed myopia,” Birk said.