Discovery of RNA Deletion Linked to Rare Neurodevelopmental Disorder Offers New Hope for Treatment
Source: globenewswire.com Section 1: Breakthrough in Understanding Genetic Protein Overproduction Researchers at Northwestern Medicine and the Broad Institute of MIT and Harvard have made a groundbreaking discovery in understanding a rare neurodevelopmental disorder caused by protein overproduction. The disorder, resulting from the chromodomain helicase DNA binding (CHD2) gene, leads to severe developmental delays, leaving patients wheelchair-bound, non-verbal, and with profound intellectual disabilities. The new study, set to be published in the New England Journal of Medicine , identifies a key player in controlling protein production—an RNA called CHASERR (CHD2 adjacent, suppressive regulatory RNA). CHASERR, a long non-coding RNA, acts as a brake to regulate how much CHD2 protein is produced. In patients with this rare disorder, the deletion of CHASERR removes this brake, causing CHD2 protein levels to surge. This overproduction of protein is linked to the severe neurode...