Research Horizons


How CHD8 Mutations Contribute to Autism Spectrum Disorders

Scientists here have clarified how mutations in the gene CHD8 harm the brain and contribute to autism spectrum disorders. They reported their findings June 18, 2018, in Developmental Cell.

Previous studies had linked CHD8 mutations to autism and abnormalities in the brain’s white matter, but the underlying biology has been a mystery.

This study showed that disruption of CHD8 hinders production and maintenance of nerve insulation, harming the brain’s neuronal connections and contributing to white matter damage. Mice engineered to lack CHD8 protein in the oligodendrocytes—cells that produce the protective nerve sheath—exhibited behavioral anomalies and seizures, according to lead investigator Q. Richard Lu, PhD, Division of Experimental Hematology and Cancer Biology.

Although study results are early, Lu says the work could lead to treatments that restore function to faulty CHD8-dependent processes.

Publication Information
Original title: Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair
Published in: Developmental Cell
Publish date: June 18, 2018
Read the study

Research By

Qing Richard Lu, PhD
Scientific Director, Brain Tumor Center
Research in Lu Lab aims to understand how distinct glial cell subtypes (oligodendrocytes, astrocytes and Schwann cells) in the central and peripheral nervous systems are generated, how they are regenerated after injury, and how their progenitors are transformed into cancerous cells under pathological conditions