Spectrum News discussed a new study from King’s College in London which found that mice lacking CHD8 have higher brain connectivity between the prefrontal cortex and other brain regions. CHD8 controls the structure of chromatin and the expression of several genes that have been linked to autism in humans with CHD8 mutations. The increased synchrony of brain activity in mice with inactive CHD8 is unusual compared to mice with mutations in other autism genes such as 16p11.2, CNTNAP2 and SHANK3b, which show decreased connectivity. Albert Basson, lead investigator of this study, proposes that certain autism subtypes are “characterized by increased long-range functional connectivity rather than reduced.” Indeed, people with the CHD8 mutation have unique features—a large head, motor delays, and wide-set eyes—that suggest a distinct sub-type of autism. However, it is difficult to conclude from mice models if overconnectivity is a consistent characteristic of this mutation. The mice model also did not show any social behavioral issues, which is typical for people with CHD8 mutations. Amongst other researchers, the Bernier lab’s Dr. Raphe Bernier, is currently investigating hyperconnectivity in children with CHD8 mutations, to further explore this relationship.
Check out the full article from Spectrum News here!