New insights into AMD

Adult-onset macular degeneration (AMD) is a degenerative disease that affects the macula, the central part of the retina responsible for sharp, central vision. It is the leading cause of vision loss in people over the age of 50. There is no cure for AMD, but early detection and treatment can slow the progression of the disease and help preserve vision.

Recently, Ruth Ashery-Padan and Ran Elkon of Tel Aviv University, Israel, and colleagues, published a new study in PLOS biology shedding new light on the molecular mechanism of retinal degeneration. Specifically, the team combined genome-wide association studies (GWAS) with binding data of  important regulators of retinal development, OTX2 and LHX2, to find variants which are at risk of ADM. Thus, a variant in the promotor of TRPM1 gene ( ion channel, mutations in the gene cause visual impairment) with reduced binding to LHX2 has been detected. 

Prof. Ruth Ashery-Padan, Head of the Department of Human Molecular Genetics and Biochemistry, a member of the Sagol School of Neuroscience and head of the Zucker–Sussman Chair for Glaucoma Research and Yoran Institute for Human Genome Research

“The findings reveal a regulatory module consisting of LHX2 and OTX2 that controls the development and maintenance of the retinal pigmented epithelium, an important tissue of visual function. The genomic analyses further link the genomic regions bound by the two developmental factors to the genetics of the common, multifactorial blinding disease age-related macular degeneration (AMD).” - Prof. Ruth Ashery-Padan.

The SCRM congratulates the researchers, using complex tools from the field of developmental biology, stem cells and bioinformatics, to identify specific genetic mutations that are associated with the disease, advancing our understanding of its underlying biology. By understanding AMD and the pathological mechanisms driving it, we can hope to develop regenerative therapies in the future. 

Link to the PLOS biology paper