Researchers at the Icahn School of Medicine at Mount Sinai have published a study in Nature Genetics that sheds light on a novel genetic variant associated with intellectual capacities and educational outcomes. This discovery offers new insights into intellectual disability diagnostics and potential therapeutic avenues. The paper is titled "A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.
" The study reveals the significant impact of tandem repeats—sequences of DNA where a pattern of nucleotides is repeated multiple times in a head-to-tail manner on a chromosome—on intellectual functioning. "The genome contains a myriad of these tandem repeats that, when expanded, can disrupt the function of genes," explained Andrew Sharp, Ph.D.
, Professor of Genetics and Genomic Sciences at Icahn Mount Sinai and lead author of the study. "Our research brings to light how these previously underappreciated genetic features can have a profound impact on human intelligence." Tandem repeats can be compared to sentences within the book of the human genome that are repeated several times.
An excessive number of these repeats can lead to a disruption in the genetic instructions, impacting an individual's development and cognitive abilities, say the investigators. Using advanced DNA methylation profiling and genotyping, the research team identified a repeat expansion of a specific nucleotide .