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Researchers identify gene linked to high myopia

16 Aug 2013

Myopia is the most common human eye disorder
While the onset of myopia has been attributed to environmental causes, studies also found genetic factors playing a part. Now, an international team which includes researchers from NUS have pinpointed mutations of the SCO2 gene as causing short-sightedness, and published the findings in the American Journal of Human Genetics.

Myopia is the most common human eye disorder. Singapore has one of the highest prevalence rates of short-sightedness, with more than half of Singaporean children developing the condition by the age of 12, according to the Health Promotion Board.

“This is the first time a gene mutation for autosomal dominant non-syndromic high-grade myopia in Caucasians has been discovered,” shared senior author Professor Terri Young, who is from the Neuroscience and Behavioural Disorders Programme at the Duke-NUS Graduate Medical School Singapore (Duke-NUS), and Professor of Ophthalmology and Paediatrics at the Duke University Medical Centre.

The team studied families with high-grade myopia and performed next-generation deep sequencing on four relatives from an 11-member American family of European descent. By analysing their DNA from blood and saliva, mutations in the SCO2 gene were found in family members with high-grade myopia while family members without myopia showed no mutations.

Next, the researchers focused on human eye tissue, noting that the SCO2 gene was expressed in areas of the eye connected to short-sightedness. In the body, the gene helps metabolise copper, an element important for regulating oxygen levels in eye tissue.

“Our findings, plus information from the literature, suggest copper deficiency could predispose people to develop myopia,” said Prof Young. She plans to continue studying animal models with SCO2 mutations to better understand the gene’s connection with near-sightedness.

The work is a collaboration among local institutions such as Duke-NUS, the Singapore Eye Research Institute, the NUS Yong Loo Lin School of Medicine, Nanyang Technological University, the Agency for Science, Technology and Research, as well as overseas institutions including Duke University, University of California, Berkeley, Université Paul Sabatier and The University of Oklahoma.

The research was made possible by the National Institutes of Health, the Lew Wasserman Award from Research to Prevent Blindness Inc, a Duke-NUS core grant, the Toulouse Hospital Young Researcher Fellowship, the Fondation pour la Recherche Médicale, Foundation de France and the National Medical Research Council of Singapore.