Provocative New Findings Suggest a Surprising Cause of Down Syndrome: Cells Linked to Aging

January 7, 2022

(STAT News) – The dominant hypothesis is that people with this syndrome make too much of the proteins encoded in the genes that reside on chromosome 21, and that this overexpression alters the timing, pattern, or extent of neurodevelopment. This theory has a name: the “gene dosage effect.” But in recent years, scientists using new RNA sequencing techniques to study cells from pairs of twins — one with Down syndrome and one without — have repeatedly turned up a curious pattern. It wasn’t just the genes on chromosome 21 that had been cranked way up in individuals with Down syndrome. Across every chromosome, gene expression had gone haywire. Something else was going on. (Read More)