Gene found in humans, mice protects cornea transparency

December 12, 2011

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 .

"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 , he called a collaborator at the University of Alberta in Canada, Ordan Lehmann, MD, professor of ophthalmology and .

Lehmann found that his patients who have a single copy of this mutated FoxC1 gene -- and who have -- also have abnormal 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 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.

Related Stories

Recommended for you

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

Evolved masculine and feminine behaviors can be inherited from social environment

August 15, 2017
The different ways men and women behave, passed down from generation to generation, can be inherited from our social environment - not just from genes, experts have suggested.

Attitudes on human genome editing vary, but all agree conversation is necessary

August 10, 2017
In early August 2017, an international team of scientists announced they had successfully edited the DNA of human embryos. As people process the political, moral and regulatory issues of the technology—which nudges us closer ...

Two genes help older brain gain new cells

August 10, 2017
Two genes act as molecular midwives to the birth of neurons in adult mammals and when inactivated in mice cause symptoms of Fragile X Syndrome, a major cause of mental retardation, a new Yale University study has shown.

0 comments

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.