A PAC1R gene mutation is linked to the severity of social deficits in autism spectrum disorders. He discovered a study led by the Children's National Medical Center, conducted on 129 patients with autism spectrum disorders. The discovery could help identify the children most in need of help, so as to intervene with specific treatments.
Autism spectrum disorders may be related to a malfunction in the amygdala, the area that processes socio-emotional information. The PAC1R gene plays a key role in the development of the amygdala. Its malfunction could therefore be the cause of the characteristic social deficits of the autistic spectrum. Children with a mutation in the gene, in fact, suffer from serious social problems and their amygdala does not work as it should.
To test their thesis, the researchers analyzed gene expression during fetal development and immediately after delivery. Animal models showed abnormal expression of PAC1R at critical moments for brain development. The fetuses had high levels of gene expression, a phenomenon particularly evident among males. After a first study on animal models, the researchers moved on humans.
Of 129 patients aged between 6 and 14, 48 underwent magnetic resonance as well as DNA analysis. Children with the genetic variant showed alterations in the connection between amygdala and temporal lobes.