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 faulty gene 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 blood vessels 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 macular degeneration and diabetic retinopathy – 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 genes 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.
For more information
To request an interview with Dr Carmel Toomes, please contact Hannah Isom in the University of Leeds press office on 0113 343 4031 or email firstname.lastname@example.org.
A full copy of the paper: ‘Mutations in TSPAN12 cause autosomal dominant familial exudative vitreoretinopathy (FEVR),’ is available to journalists on request.
Notes to editors
- Dr Carmel Toomes is a Royal Society university research fellow at the Leeds Institute of Molecular Medicine (LIMM).
- The Leeds Institute of Molecular Medicine (LIMM) is dedicated to defining the molecules involved in human diseases and using this knowledge to develop novel therapies and drugs. It is located in a new £20m state-of-the-art laboratory at St. James’s University Hospital. LIMM boasts state-of-the-art laboratory accommodation in a stimulating environment for collaborative research. The Institute’s bench-to-bedside and bedside-to-bench strategies are based on multi-disciplinary research work and strong clinical interactions with St. James’s University Hospital.
- University of Leeds: The 2008 Research Assessment Exercise showed the University of Leeds to be the UK’s eighth biggest research powerhouse. The University is one of the largest higher education institutions in the UK and a member of the Russell Group of research-intensive universities. The University’s vision is to secure a place among the world’s top 50 by 2015.
- The Wellcome Trust is the UK’s largest charity. It funds innovative biomedical research, in the UK and internationally, spending over £600 million each year to support the brightest scientists with the best ideas. The Wellcome Trust supports public debate about biomedical research and its impact on health and wellbeing.
- The Royal Society is an independent academy promoting the natural and applied sciences. Founded in 1660, the Society has three roles, as the UK academy of science, as a learned Society, and as a funding agency. Between November 2009 and November 2010, the Royal Society will be celebrating its 350th anniversary, promoting a spirit of enquiry, excitement and engagement with science. The Society will be working with organisations, across the country to raise the profile of science and bring scientific activities to new audiences.