The Role of enteric neurons in gastrointestinal symptoms associated with Autism Spectrum disorders

Project Details

Autism spectrum disorders (ASD) are characterised by impaired communication and social interaction skills, and repetitive and/or restricted behaviour. Gastrointestinal dysfunction is a major co-morbidity in ASD patients but is often thought to be secondary to dysfunctions in the brain. We are studying the effect of synaptic mutations in mice, including in mice expressing a mutation in the gene encoding the Neuroligin-3 synaptic protein (NL3R451C) associated with autism. The patients expressing this mutation have serious GI problems however the underlying mechanisms are unclear. We have demonstrated that NL3R451C mice have altered gastrointestinal function due to a change within the enteric nervous system. We are also investigating whether NL3R451C mice have a different microbiota profile and inflammatory response compared with wild type littermates and we are expanding this work to a variety of other rodent models. A major part of our research includes studying the molecular attributes of enteric synapses in order to increase our understanding of GI function. Specifically, the roles of the neurotransmitters GABA and serotonin are a focus of our research. This project will:

  1. Identify alterations in the role of GABA and serotonin in mouse models of autism.
  2. Determine if synaptic mutations act in the enteric nervous system to alter the microbiota.
  3. Identify alterations in ENS development resulting from synaptic mutations.


Dr Elisa Hill-Yardin

Elisa is the chair of the organising committee for Frontiers in Neurodevelopmental Disorders (FiND) meetings (


Professor Thomas Bourgeron, Pasteur Institute, Paris
Associate Professors Ashley Franks and Naomi Bishop, LaTrobe University, Melbourne
Associate Professor Tor Savidge, Baylor College of Medicine, Houston
Associate Professor Leigh Johnston, Electrical & Electronic Engineering Dept, University of Melbourne
Professor Tony Hannan, Florey Neurosciences Mental Health

Research Outcomes

Media articles:


ResearchGate (full text publications)

Google Scholar (citation metrics)

Research Group

Bornstein laboratory: Enteric neuroscience

Faculty Research Themes


School Research Themes

Biomedical Neuroscience, Molecular Mechanisms of Disease

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Anatomy and Physiology

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