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.
This page contains a selection of papers and other resources on this topic. You can also search this site and all types of content by creating a custom filter.
Published Articles
Results are displayed in descending order beginning with most recent publications.
Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis
Frye RE, Rincon N, Mccarty PJ, Brister D, Scheck AC, Rossignol DA. Neurobiology of Disease. 3 May 2024.
Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders
Nanda, H.; Frye, R.E. Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders. J. Pers. Med. 2023, 13, 490. https://doi.org/10.3390/jpm13030490
Metabolomic Signatures of Autism Spectrum Disorder
Brister D, Rose S, Delhey L, Tippett M, Jin Y, Gu H, Frye RE. J Pers Med. 2022 Oct 17;12(10):1727. doi: 10.3390/jpm12101727. PMID: 36294866; PMCID: PMC9604590.
Modern Biomarkers for Autism Spectrum Disorder: Future Directions
Jensen AR, Lane AL, Werner BA, McLees SE, Fletcher TS, Frye RE. Mol Diagn Ther. 2022 Sep;26(5):483-495. doi: 10.1007/s40291-022-00600-7. Epub 2022 Jun 27. PMID: 35759118; PMCID: PMC9411091.
Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis
Brister D, Werner BA, Gideon G, McCarty PJ, Lane A, Burrows BT, McLees S, Adelson PD, Arango JI, Marsh W, Flores A, Pankratz MT, Ly NH, Flood M, Brown D, Carpentieri D, Jin Y, Gu H, Frye RE. Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis. Metabolites. 2022 Apr 20;12(5):371. doi: 10.3390/metabo12050371. PMID: 35629876; PMCID: PMC9148155.
Time dependent changes in the bioenergetics of peripheral blood mononuclear cells: processing time, collection tubes and cryopreservation effects
Werner BA, McCarty PJ, Lane AL, Singh I, Karim MA, Rose S, Frye RE. Am J Transl Res. 2022 Mar 15;14(3):1628-1639. PMID: 35422946; PMCID: PMC8991115.
A Personalized Multidisciplinary Approach to Evaluating and Treating Autism Spectrum Disorder
Frye RE. J Pers Med. 2022 Mar 14;12(3):464. doi: 10.3390/jpm12030464. PMID: 35330464; PMCID: PMC8949394.
Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder
Frye RE, Lionnard L, Singh I, Karim MA, Chajra H, Frechet M, Kissa K, Racine V, Ammanamanchi A, McCarty PJ, Delhey L, Tippett M, Rose S, Aouacheria A. Transl Psychiatry. 2021 Oct 13;11(1):527. doi: 10.1038/s41398-021-01647-6. PMID: 34645790; PMCID: PMC8514530.
Physiological mediators of prenatal environmental influences in autism spectrum disorder
Frye RE, Cakir J, Rose S, Palmer RF, Austin C, Curtin P. Bioessays. 2021 Sep;43(9):e2000307. doi: 10.1002/bies.202000307. Epub 2021 Jul 14. PMID: 34260745.
Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder
Frye RE, Cakir J, Rose S, Palmer RF, Austin C, Curtin P, Arora M. J Pers Med. 2021 Mar 18;11(3):218. doi: 10.3390/jpm11030218. PMID: 33803789; PMCID: PMC8003154.
Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology
Frye RE, Cakir J, Rose S, Delhey L, Bennuri SC, Tippett M, Melnyk S, James SJ, Palmer RF, Austin C, Curtin P, Arora M. Mol Psychiatry. 2021 May;26(5):1561-1577. doi: 10.1038/s41380-020-00885-2. Epub 2020 Sep 22. PMID: 32963337; PMCID: PMC8159748.
Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder
Frye RE, Cakir J, Rose S, Delhey L, Bennuri SC, Tippett M, Palmer RF, Austin C, Curtin P, Arora M. Transl Psychiatry. 2020 Jul 7;10(1):223. doi: 10.1038/s41398-020-00905-3. PMID: 32636364; PMCID: PMC7341836.
Mitochondrial Dysfunction in Autism Spectrum Disorder: Unique Abnormalities and Targeted Treatments
Frye RE. Semin Pediatr Neurol. 2020 Oct;35:100829. doi: 10.1016/j.spen.2020.100829. Epub 2020 Jun 23. PMID: 32892956.
Developmental regression and mitochondrial function in children with autism
Singh K, Singh IN, Diggins E, Connors SL, Karim MA, Lee D, Zimmerman AW, Frye RE. Ann Clin Transl Neurol. 2020 May;7(5):683-694. doi: 10.1002/acn3.51034. Epub 2020 Apr 28. PMID: 32343046; PMCID: PMC7261756.
Association With Monocyte Cytokine Profiles and Mitochondrial Respiration
Jyonouchi H, Geng L, Toruner GA, Rose S, Bennuri SC, Frye RE. Serum microRNAs in ASD: Front Psychiatry. 2019 Sep 10;10:614. doi: 10.3389/fpsyt.2019.00614. PMID: 31551826; PMCID: PMC6748029.
A comparative study of mitochondrial respiration in circulating blood cells and skeletal muscle fibers in women
Rose S, Carvalho E, Diaz EC, Cotter M, Bennuri SC, Azhar G, Frye RE, Adams SH, Børsheim E. Am J Physiol Endocrinol Metab. 2019 Sep 1;317(3):E503-E512. doi: 10.1152/ajpendo.00084.2019. Epub 2019 Jun 18. PMID: 31211617.
Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway
Bennuri SC, Rose S, Frye RE. Front Psychiatry. 2019 May 7;10:269. doi: 10.3389/fpsyt.2019.00269. PMID: 31133888; PMCID: PMC6514096.
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses.
Barone R, Alaimo S, Messina M, Pulvirenti A, Bastin J; MIMIC-Autism Group; Ferro A, Frye RE, Rizzo R. Front Psychiatry. 2018 Dec 7;9:636. doi: 10.3389/fpsyt.2018.00636. PMID: 30581393; PMCID: PMC6292950.
Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE. Mol Diagn Ther. 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. PMID: 30039193; PMCID: PMC6132446.
Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism
Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE. Transl Psychiatry. 2018 Feb 2;8(1):42. doi: 10.1038/s41398-017-0089-z. PMID: 29391397; PMCID: PMC5804031.
Modulation of Immunological Pathways in Autistic and Neurotypical Lymphoblastoid Cell Lines by the Enteric Microbiome Metabolite Propionic Acid
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.
Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers
Khemakhem AM, Frye RE, El-Ansary A, Al-Ayadhi L, Bacha AB. Metab Brain Dis. 2017 Dec;32(6):1983-1997. doi: 10.1007/s11011-017-0085-2. Epub 2017 Aug 22. PMID: 28831647.
Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.
Burger, B.J., Rose, S., Bennuri, S.C., Gill, P.S., Tippett, M.L., Delhey, L., Melnyk, S., Frye, R.E.. Front Pediatr. 2017; 5:219.
Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines.
Frye, R.E., Rose, S., Wynne, R., Bennuri, S.C., Blossom, S., Gilbert, K.M., Heilbrun, L., Palmer, R.F. Sci Rep. 2017; 7(1):4478.
Mitochondrial dysfunction in the gastrointestinal mucosa of children with autism: A blinded case-control study.
Rose, S., Bennuri, S.C., Murray, K.F., Buie, T., Winter, H., Frye, R.E. PLoS One. 2017 Oct 13;12(10):e0186377.
Other Resources
MITOCHONDRIAL DYSFUNCTION IN ASD
from Autism File
MITOCHONDRIAL DYSFUNCTION
from The Journal of Autismone
Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis
Frye RE, Rincon N, Mccarty PJ, Brister D, Scheck AC, Rossignol DA. Neurobiology of Disease. 3 May 2024.
Update on Mitochondrial Research in Autism
Title: Update on Mitochondrial Research in Autism – Richard Frye MD PhD
Date: December 2022
Location: Synchrony 2022 – The BRAIN Foundation
Presented by: Dr. Richard Frye, MD PhD
Researchers connect autism symptoms with mitochondrial morphology
Natalya Ortolano, PhD
Posted: March 2022
Read Article
Update on Mitochondrial Research in Autism
Title: Update on Mitochondrial Research in Autism
Date: December 14, 2021
Location: The BRAIN Foundation
Presented by: Dr. Richard Frye, MD PhD
PANS and Autism
Title: PANS and Autism
Date: Jun 24, 2019
Location: Neuroimmune.org Online
Presented by: Dr. Richard Frye, MD PhD
Autism Research Connections #1
Posted by: Autism Research Connection
Posted on: March 15, 2016
Open Podcast
Read Transcripts
Autism, Mito and Oxidative Stress
Published by: Mito Action
Published on: May 2, 2014
Open Podcast
Mito, Autism and Cerebral Folate Deficiency
Posted by: Mito Action
Posted on: June 1, 2012
Open Podcast
Dr. Richard Frye Interview
By: Marion Gruner
Posted on: 2012
Read Interview
Mitochondrial Cheek Swab Test (MITOSWAB)
Mitochondrial Cheek Swab Test (MITOSWAB)
This test measures three activity enzyme proteins in the powerhouse of the cells in your body known as the mitochondria. The three enzyme proteins are called citrate synthase, complex I and complex IV. There will also be a measurement of the total amount of protein collected by the swab to make sure that there is enough protein for a valid measurement. The activity of the three proteins that are measures can be normal, abnormally low or abnormally high. These measurements are complicated to interpret so you should discuss them with you doctor.