Genes linked to blind disease
Australian scientists have found genes linked to a degenerative, incurable eye disease.
Researchers at Melbourne’s Walter and Eliza Hall Institute of Medical Research have established five key regions – or loci – in the genome most likely to influence a person’s risk of developing Macular Telangiectasia type 2 (MacTel).
MacTel is a rare and complex degenerative disease that mainly affects people from the age of 40 onwards.
The new finding will enable researchers to better understand the disease and look for ways to prevent or stop its progression.
The disease causes abnormal growth of blood vessels in the macula – located in the middle of the retina.
Patients experience a loss of central vision crucial focusing, which leads to blindness, with no treatment available to stop progression of the disease.
Professor Bahlo said the study involved detailed genetic analysis of MacTel patients from around the world, including Australia, using genome wide association studies (GWAS).
“We analysed more than six million genetic markers and identified five regions, called loci, across the genome that had similar patterns in people with the disease, but not healthy individuals,” Professor Bahlo said.
“These five ‘genetic risk loci’ are our treasure map, telling us where to ‘keep digging’ in order to discover the specific genes implicated in MacTel,” she said.
Professor Bahlo said the team worked with collaborators in London and New York to analyse the genetic data from 476 people with MacTel and 1733 controls (people without the disease).
“We were thrilled when our results were corroborated by two further independent validation studies,” she said.
The analysis also revealed that people with the MacTel genetic risk loci identified in the study had changes in their metabolism, specifically in their glycine and serine levels.