Findings from an international research collaboration may lead to a treatment for MacTel2, a currently untreatable eye disease which causes loss of central vision and affects two million people worldwide.
The research, published in the New England Journal of Medicine, links low levels of the amino acid serine, to MacTel2, leading to a build up of a toxic lipid in the retina, which causes the death of photoreceptors cells which are essential for sight.
This study has been the result of a unique, multifaceted international effort…
The research also sheds light on the link between MacTel 2 and a rare peripheral neuropathy, known as HSAN1, which causes severe weakness and numbness in the hands and feet and is caused by variants in the same two genes.
As well as paving the way for potential future treatments for MacTel2, the findings provide important clues for researchers studying other macular and neurodegenerative diseases.
The research, led by Professor Martin Friedlander, president of the Lowy Medical Research Institute and professor at Scripps Medical Institute, has involved a mix of scientists and clinicians from the US, UK and Australia, including Centre for Eye Research Australia’s Professor Robyn Guymer.
Prof Guymer has been part of the consortium since its foundation and several local patients with MacTel2 and HSAN1 participated in the recently published study.
“This study has been the result of a unique, multifaceted international effort from scientists and clinicians, using astute clinical observation along with clues from genetics and metabolomics,” she said.
“One of the first clues came from the clinical teams, who noticed that there were people with both the rare eye disease MacTel and also the rare peripheral neuropathy. This then set the direction of research that lead to this discovery.”’
Prof Guymer said the discovery raised hopes of developing treatments that could be taken to clinical trial.
The research was funded by the Lowy Medical Research Institute, Australian National Health and Medical Research Council, National Eye Institute (US), National Institutes of Health (US) and National Science Foundation (US).