U of A scientists first to pinpoint a cause of pigmentary glaucoma

Discovery identifies gene that causes common form of blindness worldwide, potentially leading to new treatment for glaucoma.

Ross Neitz - 15 September 2019

An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition.

The study, led by University of Alberta professor and chair of medical genetics Michael Walter and published in Human Molecular Genetics, also involved researchers at Harvard University and Flinders University in Australia.

The team used whole exome sequencing to identify the premelanosome protein (PMEL) gene as one associated with pigmentary glaucoma, which affects mostly young males in their 20s and 30s. Collaborating with Ted Allison, an associate professor in the Faculty of Science, they then introduced PMEL mutations into the DNA of zebrafish.

"We found that these fish had altered pigmentation and eye defects which were very reminiscent of human glaucoma," said Walter. "Altogether, the findings showed us quite clearly that we have identified a new gene that causes glaucoma."

Walter is now focused on efforts to better understand how the mutations lead to pigmentary glaucoma. He said the research also identified unexpected similarities to other neurodegenerative diseases such as Alzheimer's, which could lead to exciting new possibilities for treatment.

Funding partners include Royal Alexandra Hospital Foundation, Canadian Glaucoma Research Society, Alberta Vision Network, Canadian Institutes of Health Research, Maternal and Child Health Student Support, the BrightFocus Foundation, the March of Dimes Foundation and the National Institutes of Health.