New Findings in Genetic Pathologies of AMD

With recent successes in gene replacement therapy, scientists are enthused about studying how genetic variants play a part in age-related macular degeneration (AMD). 

Previous research has identified 34 small genomic regions (“loci”) on the DNA molecule and 52 genetic variants (mutations) within those loci that are associated with AMD. Variants can regulate certain genes to either turn on or off , so the question is “which genes are being regulated by the variants in AMD?” 

Led by Anand Swaroop, Ph.D. (chief of the Neurobiology-Neurodegeneration and Repair Laboratory at the National Eye Institute),  a study published Feb. 11 in Nature Genetics identified target disease genes at 6 of the 34 AMD loci, the most likely of which are genes labeled B3GLCT and BLOC1S1. Both of these could affect several of the AMD-related cell functions. In addition, three additional target genes were discovered, which had never before been associated with the disease, and 20 more genes were also found that could be candidates for involvement in development of AMD.

This work is exemplative of the exponentially expanding research in the genetics of AMD. Future studies will aim to explain the function of the target AMD genes to determine how they relate to AMD development and to look for targets for new treatment strategies. 


Materials provided by NIH/National Eye Institute.