Candidate Review:

Gastrointestinal Dysfunction, the MET receptor tyrosine kinase and Autism

Phillip Gorrindo* and Pat Levitt┬ž

*Neuroscience Graduate Program, Vanderbilt University Medical School , U1205 Medical Center North, Nashville , TN 37232 , USA .
┬žDepartment of Pharmacology, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37232, USA. Correspondence to P.G. e-mail: phil.gorrindo@vanderbilt.edu

Abstract | Full Text | PDF

ABSTRACT | Phenotypic heterogeneity is a fundamental problem faced by efforts to understand the etiology of Autism Spectrum Disorder (ASD), and likely reflects underlying heterogeneity of genetic and non-genetic susceptibility and causative elements. In addition to the common triad of core impairments, subgroups of individuals with ASD also experience epilepsy, immune irregularities, or gastrointestinal dysfunction (GID). The MET receptor tyrosine kinase has been associated with ASD and is implicated in GI development and repair processes. We hypothesize that pleiotropy of the MET signaling system underlies the co-occurrence of ASD and GID. We seek to leverage the phenotypic heterogeneity of ASD by subsetting populations to enrich underlying genetic signals of risk and improve understanding of ASD etiology. Through this larger goal, we also aspire to develop novel diagnostic tools, interventions and treatments for patients with ASD and GID.