Mutations of autism-linked Dyrk1a gene may affect the brain’s growth signaling network
In a rodent model, damage to the gene Dyrk1a was associated with unusual growth-factor signaling and other factors, resulting in autism-like behaviors, according to researchers at Scripps Research Institute.
“We generated a conditional mouse model using Emx1-cre, including conditional heterozygous and homozygous knockouts, to investigate the necessity of Dyrk1a in the cortex during development,” the study reads.
“We used unbiased, high-throughput phosphoproteomics to identify dysregulated signaling mechanisms in the developing Dyrk1a mutant cortex as well as classic genetic modifier approaches and pharmacological therapeutic intervention to rescue microcephaly and neuronal undergrowth caused by Dyrk1a mutations.”
The results of the study unveiled a new mechanism through which Dyrk1a mutations alter growth factor signaling.
“Our results place DYRK1A as a critical regulator of a biological pathway known to be dysregulated in humans with autism spectrum disorder and intellectual disability,” researchers concluded in their study.