In yet another breakthrough from Down Under, Australian Scientists have discovered the first evidence of genes that cause Macular Telangiectasia type 2 (MacTel), a degenerative eye disease which leads to blindness and is currently incurable and untreatable.
The team's findings established five key regions -- or loci -- in the genome most likely to influence a person's risk of developing MacTel. The finding will enable researchers to better understand the disease and look for ways to prevent or stop its progression.
MacTel is a rare and complex disease that mainly affects people from the age of 40 onwards. 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 for tasks requiring focus, such as driving or reading, with no treatment available to stop progression of the disease.
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 the healthy individuals”. "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 said a professor of the study.
The team worked with collaborators in the UK and USA to analyze the genetic data from 476 people with MacTel and 1733 controls (people without the disease). 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. The study could further mean that there could be a significant relationship between the level of glycine and serine in the body, and onset of the disease.
"Though the exact link between the disease and glycine and serine is yet to be confirmed, the connection is an exciting clue to help us further explore metabolic abnormalities in people with MacTel,“ said the professor.
Further research into MacTel could help researchers find a way to prevent the progression of the disease.