The first effort to sequence genes tied to autism in postmortem brain tissue reveals a range of harmful mutations in people with the condition.
The findings, reported 2 December in Neuron, underscore the tremendous diversity of genes that can contribute to autism. They also lend support to studies that flagged the same genes in more accessible tissues, such as saliva or blood1.
“A significant proportion of brains in the postmortem autism collections have identifiable, deleterious mutations that are likely to be causative,” says lead investigator Christopher Walsh, professor of neurology at Harvard Medical School. The results allow researchers to compare the effects of the different mutations on the brain, Walsh says.
Sequencing studies have shown that most of the genetic risk for autism is inherited, whether through rare mutations or common variants. These studies have also uncovered hundreds of autism-linked genes that carry de novomutations, which arise spontaneously in a mother’s egg or a father’s sperm.