Autism Possibly Linked to Specific Cell Malfunctions, Study Finds

Autism Possibly Linked to Specific Cell Malfunctions, Study Finds

Individuals with autism spectrum disorder (ASD) appear to suffer malfunctions in a cell that produces myelin, a coating around nerve fibers that facilitates electrical communication across the brain, a study conducted by scientists at the Lieber Institute for Brain Development finds.

Published in the journal Nature Neuroscience, the study, A Myelin-Related Transcriptomic Profile Is Shared by Pittā€“Hopkins Syndrome Models and Human Autism Spectrum Disorder, analyzed brain transcriptional changes in five mouse models of Pitt-Hopkins syndrome, a rare neurodevelopmental disorder known to produce ASD-like symptoms caused by mutations in a gene called TCF4. Analysis revealed a genetic abnormality that disrupts the function of particular cells called oligodendrocytes (OLs) that control myelin production. Researchers then explored other ASD mouse models caused by different mutations associated with autism and found consistent evidence for abnormalities in OLs.

According to the study, scientists also observed problems with OL cells in a collection of postmortem brain tissue from patients with autism who did not suffer from Pitt-Hopkins syndrome but had more common forms of ASD, exhibiting a decrease in myelin thickness in certain regions of the brain, something not found in the brains of non-ASD patients. LIBD scientists are testing compounds that may have the capacity to boost myelination in the brain and correct the problem.

"Because myelination is a lifelong process, it provides a unique therapeutic opportunity that we can tap into throughout the lifespan. Along these lines, we are eager to see whether enhancing myelination in these mice can improve their ASD-associated behaviors," said Brady Maher, lead investigator on the study. "Promising candidates could then be considered for clinical studies."