Findings from autism genetics and the study of animal models of autism suggest that some biochemical pathways are commonly affected in people with autism. The ERK signaling pathway is one such pathway. It mediates the transmission of signals from cell-surface receptors to the cytoplasm and nucleus of cells. ERK signaling regulates diverse cellular processes such as cell proliferation, differentiation and survival; and in the nervous system, it is involved in cognitive function and memory formation.

Recent evidence suggests that dysregulation of ERK pathway signaling is evident in a number of syndromic disorders associated with autism, including fragile X syndrome and RASopathies (i.e., developmental disorders caused by mutations in the RAS family of proteins).

Elliot Sherr and his colleagues at the University of California, San Francisco aim to test whether the ERK pathway is abnormally activated in individuals with a deletion or duplication at the 16p11.2 chromosomal locus. This locus contains the gene for ERK1, and deletion or duplication at this locus is a chromosomal disorder commonly associated with autism. The ERK pathway may be dysregulated in these individuals.

The researchers also plan to investigate whether a similar overactivation of ERK signaling is seen in a heterogeneous cohort of people on the autism spectrum. Finally, they plan to test whether and to what degree quantitative measures of ERK signaling correlate with behavioral outcomes in study participants.