Researchers identify gene that leads to myopia (nearsightedness)

September 1, 2011

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

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...

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.