In a largest study on any cause of glaucoma to date, researchers have discovered a rare gene mutation that can help prevent the disease.
The study involved more than 120,000 individuals from 36 countries across six continents, exemplifying the importance and benefits of multinational, cross-institutional collaborations.
Glaucoma is the leading cause of irreversible blindness worldwide. It is a condition of the eye where increase of pressure in the eyeball causes gradual loss of sight. One of the major forms of glaucoma is Exfoliation Syndrome (XFS).
Occurring globally in about 60-70 million people, XFS is an age-related disease where abnormal whitish flakes are deposited in the front of the eye, along with abnormalities in connective tissues in parts of the body.
In the largest study on any cause of glaucoma to date, researchers have discovered a rare gene mutation that can help prevent the disease.
Comprising 120,000 individuals from 36 countries across six continents, the study was co-led by the Singapore Eye Research Institute (SERI) of the Singapore National Eye Centre (SNEC) and A*STAR’s Genome Institute of Singapore (GIS).
Professor Aung Tin, Executive Director of SERI and Deputy of SNEC, affirms the results of the collaboration: “While it was very challenging to coordinate the research with most of the work being done in Singapore, the findings are very exciting as it can lead to the development of new therapies for glaucoma.”
What scientists discovered was p.Y407F, a rare mutation in the LOXL1 gene that is believed to cause XFS in certain individuals. This naturally occurring genetic mutation was found to offer a 25-fold protection against the disease, the largest ever seen. This means that scientists can now work on developing methods that can use the mutation to fight XFS.
This naturally occurring genetic mutation was found to offer a 25-fold protection against the disease, the largest ever seen.
In addition to p.Y407F, the scientists also discovered five other genes loci in XFS that will help deepen their understanding of the disease and how it works.
Said Executive Director of GIS Professor Ng Huck Hui, “A large-scale study like this reaffirms the importance and benefits of cross-institution and cross-national collaborations. We have taken a significant step towards reducing the risk of glaucoma worldwide.”
