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Systems Biology of Autism: Neurometabolism and Electrical Activity

Autism is highly heterogeneous and it affects individuals in multiple ways. This heterogeneity is usually described in terms of differences in the triad of social, communication, and behavioral deficits. However, it is becoming increasingly clear that many of the difficulties faced by people with autism may have an underlying physiological or metabolic explanation. Genetic analysis suggests that many of the proteins involved in synaptic plasticity, the core neurobiological process underlying learning and memory, have roles in balancing responses to cellular stress (glucose deficiency) against the demands for growth (activity-dependent protein synthesis).

About one-third of adults with autism have seizures at some point in their lives. Dietary therapies, including the ketogenic diet, caloric restriction, and supplementation with omega-3 fatty acids have been used to manage seizures in murine models of epilepsy and may have efficacy in the treatment refractory epilepsy in patients.  A prominent theory of autism posits that there is an unusual excitatory/inhibitory ratio in autism, possibly interfering with electrical communication between brain regions involved in language and communication. Since the ketogenic diet is known to lower the excitatory/inhibitory ratio it is conceivable that the use of this diet or other dietary interventions might be efficacious in treating autism.   Of even greater interest to our Foundation are the implications for the etiology and pathogenesis of autism that the efficacy of these putative treatments might suggest.  A primary aim of the meeting was to explore how metabolic energy (glycolysis by glial cells) modulates neurotransmission and electrical activity.

A Human Epilepsy Gene that Regulates Glutamate Synapse Maturation and Remodeling During the Period when Autism Symptoms Develop
Matthew Anderson, MD, Ph.D., Beth Israel Deaconess Medical Center

Margaret Bauman, M.D., Harvard Medical School

Susan Birren, Ph.D., Brandeis University

The Ketogenic Diet: Past, Present and Future
John Freeman, MD, The Johns Hopkins University School of Medicine

Matthew Goodwin, Ph.D., Massachusetts Institute of Technology

Martha Herbert, M.D., Ph.D., Massachusetts General Hospital

Tal Kenet, Ph.D., Massachusetts General Hospital

Katherine Martien, M.D., Massachusetts General Hospital

Rosalind Picard, Sc.D., Massachusetts Institute of Technology

Alexander Rotenberg, MD, Ph.D., Children’s Hospital Boston

Diet Therapies for Neurological and Neurodegenerative Diseases
Thomas Seyfried, Ph.D., Boston College

Implications of Tuberous Sclerosis Syndrome for Understanding Seizures in Autism
Elizabeth Thiele, MD, Ph.D., Massachusetts General Hospital

The Biochemistry, Physiology, and Therapeutic Uses of Ketosis
Richard Veech, MD, Ph.D., National Institutes of Health


The Nancy Lurie Marks Family Foundation, Wellesley , MA