Discovery could lead to treatment for eye diseases that cause blindness

December 12, 2011

CHICAGO --- A transparent cornea is essential for vision, which is why the eye has evolved to nourish the cornea without blood vessels. But for millions of people around the world, diseases of the eye or trauma spur the growth of blood vessels and can cause blindness.

A new Northwestern Medicine study has identified a gene that plays a major role in maintaining clarity of the cornea in humans and mice -- and could possibly be used as gene therapy to treat diseases that cause blindness. The paper is published in the Proceedings of the National Academy of Sciences.

"We believe we've discovered the master regulator gene that prevents the formation of blood vessels in the eye and protects the clarity of the cornea," said lead author Tsutomu Kume, associate professor of medicine at Northwestern University Feinberg School of Medicine and a researcher at Feinberg Cardiovascular Research Institute.

The existence of the gene, FoxC1, was previously known, but its role in maintaining a clear cornea is a new finding. Working with a special breed of mice that are missing this gene, Kume and colleagues found abnormal vascular formations, or blood vessels, streaking their corneas and blocking light.

When Kume discovered the corneal blood vessels in the mutant mice, he called a collaborator at the University of Alberta in Canada, Ordan Lehmann, MD, professor of ophthalmology and medical genetics.

Lehmann found that his patients who have a single copy of this mutated FoxC1 gene -- and who have congenital glaucoma -- also have abnormal blood vessel growth in their eyes.

"The exciting thing is by showing the loss of FoxC1 causes vascularization of the cornea, it means increasing levels of the gene might help prevent the abnormal growth of blood vessels, potentially in multiple eye disorders that cause blindness," said Lehmann, a coauthor on the paper. "That's the hope." One possible use might be in corneal transplants, he said, where the growth of new blood vessels onto the transplanted cornea is a major problem.

Kume next plans to test the gene therapy in mice to see if injecting FoxC1 inhibits the formation of blood vessels in the cornea.
-end-


Northwestern University

Related Gene Therapy Articles from Brightsurf:

Risk of AAV mobilization in gene therapy
New data highlight safety concerns for the replication of recombinant adeno-associated viral (rAAV) vectors commonly used in gene therapy.

Discovery challenges the foundations of gene therapy
An article published today in Science Translational Medicine by scientists from Children's Medical Research Institute has challenged one of the foundations of the gene therapy field and will help to improve strategies for treating serious genetic disorders of the liver.

Gene therapy: Novel targets come into view
Retinitis pigmentosa is the most prevalent form of congenital blindness.

Gene therapy targets inner retina to combat blindness
Batten disease is a group of fatal, inherited lysosomal storage disorders that predominantly affect children.

New Human Gene Therapy editorial: Concern following gene therapy adverse events
Response to the recent report of the deaths of two children receiving high doses of a gene therapy vector (AAV8) in a Phase I trial for X-linked myotubular myopathy (MTM).

Restoring vision by gene therapy
Latest scientific findings give hope for people with incurable retinal degeneration.

Gene therapy/gene editing combo could offer hope for some genetic disorders
A hybrid approach that combines elements of gene therapy with gene editing converted an experimental model of a rare genetic disease into a milder form, significantly enhancing survival, shows a multi-institutional study led by the University of Pennsylvania and Children's National Hospital in Washington, D.C.

New technology allows control of gene therapy doses
Scientists at Scripps Research in Jupiter have developed a special molecular switch that could be embedded into gene therapies to allow doctors to control dosing.

Gene therapy: Development of new DNA transporters
Scientists at the Institute of Pharmacy at Martin Luther University Halle-Wittenberg (MLU) have developed new delivery vehicles for future gene therapies.

Gene therapy promotes nerve regeneration
Researchers from the Netherlands Institute for Neuroscience and the Leiden University Medical Center have shown that treatment using gene therapy leads to a faster recovery after nerve damage.

Read More: Gene Therapy News and Gene Therapy Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.