Autism is a common neurodevelopmental disorder characterized by severely impaired social, communicative, and behavioral functions. It is thought that genetic make-up predisposes an individual to autism, and several genes have been associated with the development of autism. Although a region of human chromosome 7 has been identified to be associated with susceptibility to autism, none of the genes in this region had been directly implicated in the disorder until researchers from the RIKEN Brain Science Institute in Japan demonstrated that mice lacking the protein CADPS2 exhibited autistic-like characteristics.
In the study, which appears online on March 22 in advance of publication in the April print issue of the Journal of Clinical Investigation, Teiichi Furuichi and colleagues show that mice lacking CADPS2, which is encoded by a gene in the autism susceptibility region of human chromosome 7, had impaired social interactions (when pairs of CADPS2-deficient mice that had never met were placed together they interacted substantially less frequently than pairs of wild-type mice that had never met), hyperactivity, and decreased exploration of a new environment; all of which are characteristics of individuals with autism. Importantly, an abnormal form of CADPS2 mRNA (which is an intermediate in the conversion of the CADPS2 gene to CADPS2 protein) was detected in some individuals with autism and was never detected in their healthy immediate relatives, leading to the suggestion that defects in CADPS2 function might predispose individuals to develop autism.
TITLE: Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients
AUTHOR CONTACT:
Teiichi Furuichi
RIKEN Brain Science Institute, Wako, Saitama, Japan.
Phone: +81-48-467-6079; Fax: +81-48-467-6079; E-mail: tfuruichi@brain.riken.jp.
View the PDF of this article at: https://www.the-jci.org/article.php?id=29031
Journal
Journal of Clinical Investigation