Misregulated Genes May Have Big Autism Role, Brown University Study

A new study finds that two genes individually associated with rare autism-related disorders are also jointly linked to more general forms of autism. The finding suggests a new genetic pathway to investigate in general autism research. The genes encode the proteins NHE6 and NHE9, which are responsible for biochemical exchanges in the endosomes of cells. Mutations in the NHE6 gene are a direct cause of Christianson Syndrome, while mutations in the NHE9 gene lead to a severe form of autism with epilepsy. In the new study, a statistical analysis published in the journal Molecular Psychiatry, Brown University researchers and their colleagues found a specific pattern of misregulation of those two genes -- NHE9 is up-regulated and NHE6 is down-regulated -- in the brains of children with autism compared to the brains of non-autistic children.