Lack of regulatory RNA could cause too much of a good thing

The inactivation or deletion of the gene CHD2 and its product is associated with pediatric neurodevelopment disorders. But too much CHD2 can be harmful—and the balance hinges on noncoding RNA. A team of researchers from Northwestern University, Baylor University, and the Broad Institute of MIT and Harvard found that three unrelated children displaying a severe, unnamed neurodevelopmental disorder all had a deletion of a gene called CHASERR that codes for a long, noncoding RNA ( N. Engl. J. Med , 2024, DOI: 10.1056/NEJMoa2400718 ). The CHASERR gene sits adjacent to the CHD2 gene, but it does not get translated into a protein, unlike its neighbor. The researchers found that the CHASERR deletion is associated with increased levels of CHD2 expression, which they linked to the children’s syndrome , including cognitive delays, differences in facial shape , and a lack of myelination in the nervous system, suggesting that CHASERR regulates CDH2