Abnormalities in Mitochondrial Function in Autism Spectrum Disorder
Abnormalities in mitochondrial function appear to affect a significant number of children with autism spectrum disorder (ASD) but the nature of these abnormalities is poorly understood. Through critical literature reviews, clinical research and basic research, my team and I have investigated the nature of mitochondrial abnormalities in ASD. Our recent research suggests the nature of mitochondrial dysfunction in ASD is distinct from other forms of mitochondrial disease in its metabolic nature and with respect to molecular signaling pathways. We have developed a model of mitochondrial dysfunction related to ASD based on cell lines to allow us to study it in the laboratory in detail.
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Published Articles
Results are displayed in descending order beginning with most recent publications.
The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.
Delhey, L.M., Nur Kilinc, E., Yin, L., Slattery, J.C., Tippett, M.L., Rose, S., Bennuri, S.C., Kahler, S.G., Damle, S., Legido, A., Goldenthal, M.J., Frye, R.E. J Clin Med. 2017; 6(2). pii: E18.
Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study
Rose S, Bennuri SC, Wynne R, Melnyk S, James SJ, Frye RE. FASEB J. 2017; 31(3):904-909.
Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines
Frye RE, Rose S, Chacko J, Wynne R, Bennuri SC, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF. Transl Psychiatry. 2016 Oct 25;6(10):e927. doi: 10.1038/tp.2016.189. PMID: 27779624; PMCID: PMC5290345.
Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.
Frye, R.E., Cox, D., Slattery, J., Tippett, M., Kahler, S., Granpeesheh, D., Damle, S., Legido, A., Goldenthal, M.J. Sci Rep. 2016 Jan 29;6:19544.
Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome.
Frye, R.E., Rose, S., Slattery, J., MacFabe, D.F. Microb Ecol Health Dis. 2015; 26:27458.
Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder.
Frye RE. Epilepsy Behav. 2015; 47:147-57.
Oxidative stress induces mitochondrial dysfunction in a subset of autistic lymphoblastoid cell lines.
Rose, S., Frye, R.E., Slattery, J., Wynne, R., Tippett, M., Melnyk, S., James, S.J. Transl Psychiatry. 2014; 4:e377.
Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort.
Rose, S., Frye, R.E., Slattery, J., Wynne, R., Tippett, M., Pavliv, O., Melnyk, S., James, S.J. PLoS One. 2014; 9(1):e85436.
Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism.
Rossignol, D.A., Frye, R.E. Front Physiol. 2014; 22;5:150.
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
Frye, R.E., Melnyk, S., Macfabe, D.F. Transl Psychiatry. 2013; 3:e220.
Redox Metabolism Abnormalities in Autistic Children Associated with Mitochondrial Disease
Frye, R.E., DeLaTorre, R. Taylor, H. Slattery, J., Melnyk, S. James, S.J.Translational Psychiatry, 2013 3:e273. DOI: 10.1038/tp.2013.51. PMID: 23778583
Substantial problems with measuring brain mitochondrial dysfunction in autism spectrum disorder using magnetic resonance spectroscopy.
Rossignol, D.A., Frye, R.E. J Autism Dev Disord. 2012; 42(4):640-2.
Mitochondrial disease in 22q13 duplication syndrome.
Frye RE. J Child Neurol. 2012; 27(7):942-9.
Mitochondrial Dysfunction in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis.
Rossignol, D., Frye, R.E. Molecular Psychiatry, 2012; 17(3):290-314. DOI: 10.1038/mp.2010.136. PMID: 21263444
Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders.
Frye, R.E., Rossignol, D.A. Pediatr Res. 2011; 69(5 Pt 2):41R-7R.
Developmental regression and mitochondrial dysfunction in a child with autism.
Poling, J.S., Frye, R.E., Shoffner, J., Zimmerman, A.W. J Child Neurol. 2006; 21(2):170-2.