Age-Related Macular Degeneration (AMD) is a leading cause of vision loss and blindness in people 65 and older. It targets the macula, the part of the eye that allows you to see clearly. Around 2.1 million have it in the United States and this number may rise to 5.4 million by 2050.
In this post, your local optometrist, Joel H McGahen OD discusses how a new study on genes associated with AMD can contribute to discovering new treatment options.
Studying Genetic Variants
Scientists from the National Eye Institute conducted a study focusing on genes linked with AMD. Prior to this, they have compared groups of people with and without AMD. They distinguished 34 small genomic areas called loci and 52 genetic variants within these loci significantly associated with AMD. The researchers studied if these variants are responsible for the regulation of AMD-relevant genes. They observed promoters, or the sequences within the DNA that activate genes and enhancers that increase the promoters’ activity.
The team examined 453 retinas from deceased human donors with and without AMD. The study consisted of sequencing each retina’s ribonucleic acid (RNA), and the molecule that carries instructions from the DNA for producing protein. 13,662 protein-coding and 1,462 non-protein-coding were found.
In order to discover the genetic variants regulating gene expression in the retina, they utilized expression quantitative trait loci (eQTL) analysis. They focused on searching for the variants that may be responsible for the variation in gene expression among people with and without AMD.
Findings
Among all the target genes, B3GLCT and BLOC1S1 were found the most significant. They could affect AMD-related cell functions like signaling or the breakdown and disposal of unwanted proteins and the stability of the extracellular matrix, the cell’s distribution framework.
Further research should be done to correlate the interaction of environmental and behavioral factors with genes when it comes to developing the diseases. White people, smokers and those with a family history of AMD are at higher risk. Whether you have an increased risk or not, it’s important to regularly visit an eye doctor to ensure good vision health.
Early detection of any eye disease can help prevent further vision problems. Schedule your exam with the area’s leading optometrist, Joel H McGahen, OD. We provide high-quality eyeglasses, contact lenses and eye care. Contact us at (717) 264-4012 or complete our online form. We serve patients in Chambersburg, PA.