Authors: Juliet A. Moncaster, Roberto Pineda, Robert D. Moir, Suqian Lu, Mark A. Burton, Joy G. Ghosh, Maria Ericsson, Stephanie J. Soscia, Anca Mocofanescu, Rebecca D. Folkerth, Richard M. Robb, Jer R. Kuszak, John I. Clark, Rudolph E. Tanzi, David G. Hunter, Lee E. Goldstein
DOI: 10.1371/journal.pone.0010659
Abstract Summary
Down syndrome patients develop distinctive cataracts due to amyloid-β accumulation in the eye lens—the same protein that causes Alzheimer’s brain pathology. Researchers found that triplication of the APP gene in chromosome 21 leads to excess amyloid-β deposits in lens cells, creating characteristic opacification patterns identical to those in Alzheimer’s patients. This discovery reveals the genetic cause of DS cataracts and confirms amyloid-β as a common pathogenic link between eye and brain disease in both conditions.
Why Brain? 🧠
Down syndrome patients develop early cataracts due to amyloid-β accumulation in the lens, mirroring Alzheimer’s brain pathology and revealing a shared disease mechanism between eye and brain disorders.
The image is AI-generated for illustrative purposes only. Courtesy of Midjourney.
