International research collaboration by the Singapore Eye Research Institute (SERI) and A*STAR's Genome Institute of Singapore (GIS).
An international research collaboration led by researchers from the Singapore Eye Research Institute (SERI) and A*STAR's Genome Institute of Singapore (GIS) have led to the discovery of a mutated gene that renders people highly susceptible to a severe eye disorder called Exfoliation Syndrome (XFS).
The study involved 8,400 patients from 17 countries and was reported in the prestigious scientific journal, Nature Genetics.
The scientists also found that 40 to 56 per cent of Singaporeans are likely to develop XFS sometime in their lives. This figure is in stark contrast to the global average of 16 to 25 per cent of similar individuals likely to develop XFS.
SERI Executive Director and Senior Consultant and Head of Glaucoma Department, Singapore National Eye Centre, Prof Aung Tin said, “This is an exciting discovery as the pathway we have found could be a target for new therapies and medications to prevent or treat this type of glaucoma.”
A*STAR’s Dr Khor Chiea Chuen from GIS said, “Glaucoma is one of the most common eye diseases in Singapore and around the world. With this knowledge, we can now concentrate our efforts to develop therapeutic solutions to address and normalise the calcium signalling function in order to reduce the risk of XFS and the development of glaucoma.”
XFS usually develops in people above the age of 60 years old and is characterised by the body’s inability to remove waste proteins from inside the eye. The accumulation of these waste proteins clogs the eye’s drainage mechanism that results in a build-up of fluid and pressure in the eye in a condition called Glaucoma.
If left untreated, a person with glaucoma can become permanently blind.
“The project was extremely stimulating and interesting as we were working with more than 90 collaborating sites from 17 different countries... It was a huge honour for us in Singapore to be coordinating and leading this global study of such scale and impact.”
The gene believed to be responsible for XFS is called CACNA1A. The scientists found that CACNA1A affects the body’s calcium transport channels, which are important for many vital biological functions. Those who carry the CACNA1A gene have faulty calcium transport channels that hinder normal bodily functions, such as the eye’s ability to efficiently remove waste proteins.
“On a personal level,” added Prof Aung, “the project was extremely stimulating and interesting as we were working with more than 90 collaborating sites from 17 different countries in Asia, Europe, Australia, Africa, North America and South America. It was a huge honour for us in Singapore to be coordinating and leading this global study of such scale and impact.”