Researchers identify gene that leads to myopia (nearsightedness)

September 1, 2011, American Associates, Ben-Gurion University of the Negev

A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness.

In an article appearing online in the today, Birk and his team reveal that a mutation in LEPREL1 has been shown to cause myopia.

"We are finally beginning to understand at a molecular level why occurs," Prof. Birk says. The discovery was a group effort at BGU's Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev and the Dayan Wing at Soroka University Medical Center.

Nearsightedness is the most common human eye disorder and is mostly a hereditary trait. Aside from being a significant public health concern, nearsightedness also leads to a higher incidence of other secondary eye disorders, such as , macular degeneration, as well as early onset glaucoma and cataracts. Despite decades of intensive research, the specific genes whose defects lead to nearsightedness have remained elusive.

The defective gene was identified in a thorough study of severe early-onset myopia that is common in a specific Bedouin tribe in southern Israel. As part of the research and in collaboration with a Finnish group, studies in a model system using demonstrated that the mutation is detrimental to the enzymatic activity of the gene.

The gene, LEPREL1, encodes an enzyme that is essential for the final modification of collagen in the eye. 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, entering the eyeball focus in front of the retina rather than on the retina itself and myopia emerges.

Future studies will determine whether LEPREL1 or its related genes play a significant role in the causation of myopia in the population at large as well.

Prof. Birk's group has thus far elucidated the molecular mechanisms leading to more than 15 human diseases, and the research findings are effectively implemented in massive screening tests and prevention programs.

Related Stories

Recommended for you

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Two new breast cancer genes emerge from Lynch syndrome gene study

January 18, 2018
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Can mice really mirror humans when it comes to cancer?

January 18, 2018
A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer.

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

2 comments

Adjust slider to filter visible comments by rank

Display comments: newest first

hush1
not rated yet Sep 02, 2011
This research extends on a foundation pioneered in the following reference link:
http://www.nature...706.html

A final modification of collagen is incorrect. The process of modification is reversible. During embryonic development eyes are formed or shaped. Forming or shaping can only occur before LEPREL1 encodes an enzyme(which?) for modification of collagen. There is nothing "final" about a reversible modification.
hush1
not rated yet Sep 02, 2011

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.