New gene discovery could help to prevent blindness

February 11, 2010

Scientists have uncovered a new gene that could help save the sight of patients with a type of inherited blindness.

The international research team led by the University of Leeds found that the TSPAN12 gene is faulty in patients with a disease known as FEVR (Familial Exudative Vitreoretinopathy), which affects the development of the eye.

While many FEVR patients are registered blind or visually impaired, members of the same family may carry the without showing any symptoms. It is hoped that by screening these family members for TSPAN12 mutations, doctors may be able to catch FEVR early on and treat patients before they start to lose their sight. It will also broaden their understanding of other more common blinding disorders.

Dr Carmel Toomes, of the Leeds Institute of Molecular Medicine who led the research, said: "This discovery will have an immediate impact on the treatment and counselling of some FEVR patients by allowing us to identify family members who carry the mutated gene before any retinal damage has occurred. This decreases their chances of going blind because if a patient is diagnosed early enough their sight can often be saved by surgical intervention."

TSPAN12 is thought to cause FEVR by disrupting the cell signals required for the normal development of in the retina at the back of the eye.

This study, which was funded by The Royal Society and the Wellcome Trust, looked at 70 FEVR patients who had tested negative for the three genes already known to cause the disease. Mutations in the TSPAN12 gene, which is located on chromosome 7, were found in 10% of these patients.

As well as being an important piece in the FEVR puzzle, this latest discovery will help scientists to understand other blinding disorders including age-related and - two of the leading causes of blindness in the developed world.

"Our research highlights how studying rare inherited disorders such as FEVR can help us identify the and pathways involved in the basic cellular processes underlying more common diseases," Dr Toomes added.

"We hope that by learning more about blood vessel formation in FEVR we will gain clues that may lead to new treatments for these conditions."

The research will be published in the American Journal of Human Genetics on 12th February.

More information: Poulter JA et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet 2010;86:248-253.

Related Stories

Recommended for you

A math concept from the engineering world points to a way of making massive transcriptome studies more efficient

November 17, 2017
To most people, data compression refers to shrinking existing data—say from a song or picture's raw digital recording—by removing some data, but not so much as to render it unrecognizable (think MP3 or JPEG files). Now, ...

US scientists try first gene editing in the body

November 15, 2017
Scientists for the first time have tried editing a gene inside the body in a bold attempt to permanently change a person's DNA to try to cure a disease.

Genetic mutation in extended Amish family in Indiana protects against aging and increases longevity (Update)

November 15, 2017
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern ...

Genetic variant prompts cells to store fat, fueling obesity

November 13, 2017
Obesity is often attributed to a simple equation: People are eating too much and exercising too little. But evidence is growing that at least some of the weight gain that plagues modern humans is predetermined. New research ...

Discovering a protein's role in gene expression

November 10, 2017
Northwestern Medicine scientists have discovered that a protein called BRWD2/PHIP binds to histone lysine 4 (H3K4) methylation—a key molecular event that influences gene expression—and demonstrated that it does so via ...

Twin study finds genetics affects where children look, shaping mental development

November 9, 2017
A new study co-led by Indiana University that tracked the eye movement of twins finds that genetics plays a strong role in how people attend to their environment.

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.