StemCell Therapy

Posted February 28, 2017 17:44:11

The first genetic indicator of an eye disease which results in blindness has been discovered by an international team of researchers.

The degenerative eye disease Macular Telangiectasia type 2, or MacTel, is incurable and usually strikes people who are over the age of 40.

Up until now identifying a possible cause for the disease has been difficult.

Scientists are unsure as to how many Australians have MacTel, but they estimate somewhere between 500 and 1,200.

The disease affects the macular the centre of the eye said Professor Melanie Bahlo, from the Walter and Eliza Hall Institute in Melbourne.

"What happens is blood vessels dissolve and start growing into the centre of the eye, and that leads to blindness," she said.

"And there's also the crystalline deposits that form."

This leads to a gradual loss of central vision over a period of 10 to 20 years, impacting people's use of their sharp vision for tasks like driving and reading.

There were also signs that there could be genetic predispositions for MacTel in certain people.

"You can get several family members [with the disease], in the worst case scenario," Professor Bahlo said.

"That usually means that there's a genetic basis to the disease."

To find out more, researchers collaborated with teams in London and New York to analyse the genetic data of nearly 500 MacTel patients, and 1,700 people without the disease.

Professor Bahlo said they carried out statistical analysis of DNA data from about 6 million markers in the genome of patients with the condition and then compared them to those without.

They found genetic similarities in five key regions of the genome.

Professor Bahlo said four of the five genome regions identified were connected with two crucial amino acids and the fifth region was connected with the size of blood vessels in the retina.

She likened the discovery of the five genetic risk locations to a "treasure map" and said scientists would now keep digging to find out more about the genes associated with MacTel.

Professor Bahlo said they hoped the discovery would eventually help identify people at risk of developing the eye disease.

"For the first time we know a pathway to investigate the future by medical research with future studies in the lab," she said.

"We'll try and validate those findings further. But we've also got some potential biomarkers which will help us diagnose the disease, which is difficult to diagnose, and just pinpoint people who may have faster or slower progression."

The study will be published in the journal Nature Genetics.

Topics: dna, science-and-technology, genetics, cloning-and-dna, eyes, diseases-and-disorders, health, medical-research, research, melbourne-3000, australia, vic

Continue reading here:
Genetic clue to form of blindness could lead to early diagnosis - ABC Online

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