Scientists studying an inherited condition resulting in blindness and crumbling teeth have found a single defective gene can affect both eye function and normal tooth development.
A previously undiscovered and unexpected link between the formation of teeth and eyes has been uncovered by researchers from the University of Leeds, through studies in two families living in a village in the war-torn Gaza strip.
Funded by the Wellcome Trust and Yorkshire Eye Research, the project team sought to identify the cause of a condition they named Jalili syndrome, in which related individuals suffered loss of eyesight, almost from birth, and poorly developed teeth.
Chris Inglehearn, Professor of Molecular Ophthalmology at Leeds Institute of Molecular Medicine, said: "What interested us was the idea that there might be a single process or protein essential in both teeth and eyes, not something you'd normally think of as having much in common.
"Working with colleagues in the Leeds Dental Institute, genetic changes were found that disrupt the function of a protein called CNNM4 and that are passed on from one generation to the next in these families. This protein is present in the cells that lay down tooth enamel and also in the various layers of the retina, the light sensitive 'film' at the back of the eye."
Prof Inglehearn added that little is yet known about the role of this vital protein but it is possible that it is involved in transporting magnesium or calcium to cells in the body. Both minerals are known to be important in visual function and in teeth and bone formation.
Although a rare condition, Jalili syndrome sufferers from France, Scotland, Iran, Bosnia and Guatemala were also studied. Further research could help scientists gain a better understanding of more common forms of blindness, weak teeth and bone diseases such as osteoporosis, and in time may lead to better treatments.
The possibility of using gene replacement therapy to reverse the effects of this condition is still a long way off and would need to be applied soon after birth to be effective.
Martin McKibbin, Consultant Ophthalmologist at St James University Hospital and Chair of Yorkshire Eye Research, said: "The findings of this research are surprising but will give doctors and scientists a greater understanding of the causes of inherited blindness and may identify novel treatments in the future.
"Yorkshire Eye Research is pleased to be able to support this and other research projects in Yorkshire. The charity relies on donations from individuals and organisations in Yorkshire to continue its work."
Jalili syndrome is named after team member Ismail Jalili, who travelled regularly to Gaza and the occupied West Bank trouble spots to recruit the Gaza strip families into the research, until the escalation of conflict made such trips impossible.
For further information: http://www.limm.leeds.ac.uk/research_sections/ophthalmology_and_neuroscience/groups/mighell.htm
For further information and interviews contact:
Ruth Badley, Northern Lights PR on 01423 562 400 or
Simon Jenkins, University of Leeds Press Office, 0113 3434031 or 07791 333229.
Notes to editors
The paper "Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal recessive cone-rod dystrophy and amelogenesis imperfect" is published in American Journal of Human Genetics.
The University of Leeds is one of the largest higher education institutions in the UK with more than 30,000 students from 130 countries and a turnover of £450m. The University is a member of the Russell Group of research-intensive universities and the 2008 Research Assessment Exercise showed it to be the UK's eighth biggest research powerhouse. The University's vision is to secure a place among the world's top 50 by 2015. www.leeds.ac.uk
With more than 6,000 students, 1,500 staff and annual research income topping £35m, the Faculty of Medicine and Health at Leeds is bigger than many entire universities. Leeds has one of the largest medical and bioscience research bases in the UK, and is an acknowledged world leader in cancer, cardiovascular, psychiatric, genetic and musculo-skeletal research. Treatments developed in Leeds are transforming the lives of people around the world living with conditions such as HIV, TB, diabetes and malaria.
The Wellcome Trust is the largest charity in the UK. 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. http://www.wellcome.ac.uk
Yorkshire Eye Research was launched in 2000 as the northern branch of the National Eye Research Centre (charity number 294087). The primary aim of the charity is to raise money in Yorkshire to spend on eye research in Yorkshire and over £500,000 has been awarded in grants to researchers in Bradford, Bridlington, Leeds, Sheffield and York. These research projects have involved identifying the causes, prevention, diagnosis and treatment of eye disease in the region and beyond. A second aim of the charity is to secure funding for a Clinical Professor of Ophthalmology within the Section of Ophthalmology and Neurosciences at Leeds University. This post would help promote high quality clinical research in Yorkshire and complement the existing vision science teams. http://www.charitydonationuk.com/