Published this month (July) in Nature Genetics, the genome-wide association study of XFS cases uncovered a rare protective mutation in the LOXL1 gene referred to as p.Y407F. The study claimed that the mutation offers a 25-fold protection against XFS.
The study, led by the Genome Institute of Singapore (GIS) and the Singapore Eye Research Institute, involved more than 120,000 individuals, including XFS cases and controls from 36 countries across six continents.
“XFS occurs across all ethnic groups and, due to the expected shift in population demographics towards aging, we anticipate the burden of XFS to increase over time.”
Khor Chiea Chuen, Genome Institute of Singapore
Khor Chiea Chuen, corresponding author for the study and principal investigator of human genetics at GIS, tells SciDev.Net that studying protein-changing mutations in LOXL1 gave strong insights into protection against XFS.
“In time, we hope that a cure for XFS will be found due to what we have learnt from these mutations,” Khor says.
In a media statement, Janey Wiggs, joint corresponding author for the study and Paul Austin Chandler, professor of ophthalmology, Harvard Medical School, said the research findings “improve our understanding of glaucoma and suggest important new therapeutic strategies against this common cause of blindness.”
An age-related condition, XFS manifests as whitish flakes deposited in the front of the eye. “XFS occurs across all ethnic groups and, due to the expected shift in population demographics towards aging, we anticipate the burden of XFS to increase over time,” Khor says.
According to WHO, some 285 million people are estimated to be visually impaired worldwide. Of these, about 39 million people are blind, most of them aged 50 and above. Pamela Allarey, glaucoma specialist and member of the Philippine Glaucoma Society, said the discovery of a gene mutation that offers protection against XFS is exciting, “but we have to understand that glaucoma is a spectrum of different diseases that leads to optic nerve damage and visual field loss. Hence, there are many genes related to the development of the disease.”
There’s also the question of whether people will have access to it or if they can afford it once gene therapy for glaucoma becomes available, says Allarey.
This piece was produced by SciDev.Net’s Asia & Pacific desk.