MIT: Fragile X study uncovers brain wave biomarker bridging humans and mice

Researchers find mice modeling the autism spectrum disorder fragile X syndrome exhibit the same pattern of differences in low-frequency waves as humans — a new marker for treatment studies. Numerous potential treatments for neurological conditions, including autism spectrum disorders, have worked well in mice but then disappointed in humans. What would help is a non-invasive, objective readout of treatment efficacy that is shared in both species. 

In a new open-access study in Nature Communications, a team of MIT researchers, backed by collaborators across the United States and in the United Kingdom, identifies such a biomarker in fragile X syndrome, the most common inherited form of autism.

Led by postdoc Sara Kornfeld-Sylla and Picower Professor Mark Bear, the team measured the brain waves of human boys and men, with or without fragile X syndrome, and comparably aged male mice, with or without the genetic alteration that models the disorder.

The novel approach Kornfeld-Sylla used for analysis enabled her to uncover specific and robust patterns of differences in low-frequency brain waves between typical and fragile X brains shared between species at each age range. In further experiments, the researchers related the brain waves to specific inhibitory neural activity in the mice and showed that the biomarker was able to indicate the effects of even single doses of a candidate treatment for fragile X called arbaclofen, which enhances inhibition in the brain.

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