Mutations in three genes strongly associated with autism shift the pace at which certain inhibitory and excitatory neurons develop, according to a study published today in Nature. The findings reveal a novel point of convergence by which the mutations affect brain growth and activity, the researchers say.
“There is a problem of timing, basically,” says lead researcher Paola Arlotta, professor of stem cell and regenerative biology at Harvard University. That timing issue, she says, “may result later in imbalances in the way the circuit is wired and works.” An imbalance between excitatory and inhibitory signaling in the brain is thought to contribute to autism.
The three genes—ARID1B, CHD8 and SUV420H1 (also known as KMT5B)—are all involved in regulating chromatin, the complex of proteins and coiled DNA that makes up chromosomes. In addition to having an increased likelihood of autism, people who carry a mutation in one of these genes also ...
