Singapore researchers discover rare gene mutation that can stop glaucoma

Glaucoma is often caused by exfoliation syndrome (XFS) and is responsible for irreversible blindness globally.

Picture for representation Reuters

A*STAR's Genome Institute of Singapore (GIS) and the Singapore Eye Research Institute (SERI) of the Singapore National Eye Centre (SNEC) have spearheaded a study that led to the discovery a mutated gene which can prevent glaucoma.

As the leading cause of irreversible blindness globally, glaucoma is often caused by exfoliation syndrome (XFS) where abnormal whitish flakes are deposited in the front of the eye especially in the iris and in the lens and zonules. XFS affects approximately 60 to 70 million people.

There are attempts by different research institutions to alter the LOXL1 gene which shows a strong association with XFS. However, A*Star said the association with common genetic markers at LOXL1 are reversed depending on ethnic group, thus rendering the health implications unclear.

In the study by the Singaporean researchers, they discovered a rare protective mutation in the LOXL1 gene. The mutation, labelled as p.Y407F, was concluded to offer protection against XFS instead, thereby leading to the prevention of secondary glaucoma.

One of the study's corresponding authors and Principal Investigator of Human Genetics at the GIS Dr Khor Chiea Chuen said that this mutation offers a 25-fold protection from the diseases.

"Naturally occurring genetic variants are hard to find, but once discovered, they pinpoint potentially druggable targets. These are what we call 'accidents and experiments of nature'. The LOXL1 p.Y407F rare variant reported in this study is one of these examples," he said in a statement.

The researchers also unravelled five new susceptibility gene loci in XFS to help them better understand and comprehend the disease.

SERI Executive Director Aung Tin and lead author of the research said the paper was the largest ever genetic study for glaucoma.

"[W]ith so many centres and patients from 35 countries involved, 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," he told the press.