An international team of researchers led by a University of Liverpool scientist has discovered three new genes associated with increased risk of age-related macular degeneration, the most common cause of blindness in the elderly.
Age-related macular degeneration is a degenerative disorder of the central retina and the most common cause of sight impairment in those aged over 50. It is predicted to affect 288 million people by 2040.
The condition causes blurred or reduced central vision in one or both eyes. It significantly affects quality of life, making it difficult to see details, like recognize people’s faces and read.
There is currently no treatment for patients living with the most common form of macular degeneration, known as ‘dry’ macular degeneration.
“Our main aim for conducting this research was to help tackle an area of unmet clinical need,” said study lead author Dr. Louise Porter, from the Department of Eye and Vision Science at the University of Liverpool and St Paul’s Eye Unit at Royal Liverpool University Hospital.
“This work has identified new genes, providing us with novel targets for investigation in a disease in desperate need for therapies.”
Dr. Porter and colleagues used cells from 44 human donor eyes to profile the levels of DNA methylation — a chemical change that may be influenced by sex, age, smoking and diet — and looked at the underlying gene changes in age-related macular degeneration.
In doing so, they were able to identify changes in specific genes that were not previously known to be linked to the condition.
The results, published in the journal Clinical Epigenetics, pave the way for testing new treatments that could target the affected genes.
“There is currently no treatment for dry age-related macular degeneration so the results from this study are extremely positive and bring hope for people living with this condition,” said Dr. Neil Ebenezer, Director of Research, Policy and Innovation at Fight for Sight, a non-profit U.S. organization that funded this research.
“By identifying new gene targets, researchers have more options for developing new treatments.”
Louise F. Porter et al. 2019. Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes. Clinical Epigenetics 11 (6); doi: 10.1186/s13148-019-0608-2