MItochondrial Dysfunction

Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial

Hill, Z.; McCarty, P.J.; Boles, R.G.; Frye, R.E. A Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial. Int. J. Mol. Sci. 2025, 26, 2479.

 

Read Article

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. https://doi.org/10.1016/j.nbd.2024.106520

Read Article

Bioenergetic Signatures of Neurodevelopmental Regression

Frye RE, Mccarty PJ, Werner BA, Rose S, Scheck A. Front. Physiol. Sec. Mitochondrial Research. Vol 15 -2024. doi: 10.3389/fphys.2024.1306038

Read Article

Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half

Omri Bar , Elizabeth Vahey , Mark Mintz , Richard E. Frye , Richard G. Boles. International Journal of Molecular Sciences. 18 Jan 2024.

Read Article

PREPRINT: High Sensitivity for Detection of Primary Diagnostic Variants in Autism, Including De Novo Variants, with Trio Whole Genome Sequencing and Data Reanalysis

Omri Bar , Elizabeth Vahey , Mark Mintz , Richard E. Frye , Richard G. Boles. Preprints.org. 14 Aug 2023.

Read Article

Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders

Frye, R.E.; Nanda, H.; Pleasure, S.J.; Casanova, M.F.; Boles, R.G.; Lewine, J.; Gaitanis, J.; Adams, J.B. Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable. J. Pers. Med. 2023, 13, 557. https://doi.org/10.3390/jpm13030557

Read Article

The Soluble Folate Receptor in Autism Spectrum Disorder: Relation to Autism Severity and Leucovorin Treatment.

Frye RE, Lane A, Worner A, Werner BA, McCarty PJ, Scheck AC, Collins HL, Adelman SJ, Quadros EV, Rossignol DA. The Soluble Folate Receptor in Autism Spectrum Disorder: Relation to Autism Severity and Leucovorin Treatment. J Pers Med. 2022 Dec 8;12(12):2033. doi: 10.3390/jpm12122033. PMID: 36556254; PMCID: PMC9786140.

Read Article

Metabolomic Signatures of Autism Spectrum Disorder

Brister D, Rose S, Delhey L, Tippett M, Jin Y, Gu H, Frye RE. Metabolomic Signatures of Autism Spectrum Disorder. J Pers Med. 2022 Oct 17;12(10):1727. doi: 10.3390/jpm12101727. PMID: 36294866; PMCID: PMC9604590.

Read Article

Modern Biomarkers for Autism Spectrum Disorder: Future Directions

Jensen AR, Lane AL, Werner BA, McLees SE, Fletcher TS, Frye RE. Modern Biomarkers for Autism Spectrum Disorder: Future Directions. Mol Diagn Ther. 2022 Sep;26(5):483-495. doi: 10.1007/s40291-022-00600-7. Epub 2022 Jun 27. PMID: 35759118; PMCID: PMC9411091.

Read Article

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.

Read Article

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. Time dependent changes in the bioenergetics of peripheral blood mononuclear cells: processing time, collection tubes and cryopreservation effects. Am J Transl Res. 2022 Mar 15;14(3):1628-1639. PMID: 35422946; PMCID: PMC8991115.

Read Article

A Personalized Multidisciplinary Approach to Evaluating and Treating Autism Spectrum Disorder

Frye RE. A Personalized Multidisciplinary Approach to Evaluating and Treating Autism Spectrum Disorder. J Pers Med. 2022 Mar 14;12(3):464. doi: 10.3390/jpm12030464. PMID: 35330464; PMCID: PMC8949394.

Read Article

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. Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder. Transl Psychiatry. 2021 Oct 13;11(1):527. doi: 10.1038/s41398-021-01647-6. PMID: 34645790; PMCID: PMC8514530.

Read Article

Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder

Frye RE, Cakir J, Rose S, Palmer RF, Austin C, Curtin P, Arora M. Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder. J Pers Med. 2021 Mar 18;11(3):218. doi: 10.3390/jpm11030218. PMID: 33803789; PMCID: PMC8003154.

Read Article

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. Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology. Mol Psychiatry. 2021 May;26(5):1561-1577. doi: 10.1038/s41380-020-00885-2. Epub 2020 Sep 22. PMID: 32963337; PMCID: PMC8159748.

Read Article

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. Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder. Transl Psychiatry. 2020 Jul 7;10(1):223. doi: 10.1038/s41398-020-00905-3. PMID: 32636364; PMCID: PMC7341836.

Read Article

Mitochondrial Dysfunction in Autism Spectrum Disorder: Unique Abnormalities and Targeted Treatments

Frye RE. Mitochondrial Dysfunction in Autism Spectrum Disorder: Unique Abnormalities and Targeted Treatments. Semin Pediatr Neurol. 2020 Oct;35:100829. doi: 10.1016/j.spen.2020.100829. Epub 2020 Jun 23. PMID: 32892956.

Read Article

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.

Read Article

Association With Monocyte Cytokine Profiles and Mitochondrial Respiration

Jyonouchi H, Geng L, Toruner GA, Rose S, Bennuri SC, Frye RE. Serum microRNAs in ASD: Association With Monocyte Cytokine Profiles and Mitochondrial Respiration. Front Psychiatry. 2019 Sep 10;10:614. doi: 10.3389/fpsyt.2019.00614. PMID: 31551826; PMCID: PMC6748029.

Read Article

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. A comparative study of mitochondrial respiration in circulating blood cells and skeletal muscle fibers in women. Am J Physiol Endocrinol Metab. 2019 Sep 1;317(3):E503-E512. doi: 10.1152/ajpendo.00084.2019. Epub 2019 Jun 18. PMID: 31211617.

Read Article

Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway

Bennuri SC, Rose S, Frye RE. Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway. Front Psychiatry. 2019 May 7;10:269. doi: 10.3389/fpsyt.2019.00269. PMID: 31133888; PMCID: PMC6514096.

Read Article

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. A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses. Front Psychiatry. 2018 Dec 7;9:636. doi: 10.3389/fpsyt.2018.00636. PMID: 30581393; PMCID: PMC6292950.

Read Article

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder

Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE. Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder. Mol Diagn Ther. 2018 Oct;22(5):571-593. doi: 10.1007/s40291-018-0352-x. PMID: 30039193; PMCID: PMC6132446.

Read Article

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. Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism. Transl Psychiatry. 2018 Feb 2;8(1):42. doi: 10.1038/s41398-017-0089-z. PMID: 29391397; PMCID: PMC5804031.

Read Article

Modulation of Immunological Pathways in Autistic and Neurotypical Lymphoblastoid Cell Lines by the Enteric Microbiome Metabolite Propionic Acid

Frye RE, Nankova B, Bhattacharyya S, Rose S, Bennuri SC, MacFabe DF. Front Immunol. 2017 Dec 22;8:1670. doi: 10.3389/fimmu.2017.01670. PMID: 29312285; PMCID: PMC5744079.

Read Article

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. PMID: 28749475; PMCID: PMC7804217.

Read Article

Mitochondrial dysfunction in the gastrointestinal mucosa of children with autism: A blinded case-control study

Rose S, Bennuri SC, Murray KF, Buie T, Winter H, Frye RE. Mitochondrial dysfunction in the gastrointestinal mucosa of children with autism: A blinded case-control study. PLoS One. 2017 Oct 13;12(10):e0186377. doi: 10.1371/journal.pone.0186377. PMID: 29028817; PMCID: PMC5640251.

Read Article

Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction

Burger BJ, Rose S, Bennuri SC, et al. Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction. Frontiers in Pediatrics. 2017 ;5:219. DOI: 10.3389/fped.2017.00219. PMID: 29075622; PMCID: PMC5643424.

Read Article

Bioenergetic variation is related to autism symptomatology

Delhey L, Kilinc EN, Yin L, Slattery J, Tippett M, Wynne R, Rose S, Kahler S, Damle S, Legido A, Goldenthal MJ, Frye RE. Bioenergetic variation is related to autism symptomatology. Metab Brain Dis. 2017 Dec;32(6):2021-2031. doi: 10.1007/s11011-017-0087-0. Epub 2017 Aug 29. PMID: 28852932; PMCID: PMC5681971.

Read Article

Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers

Khemakhem, A.M., Frye, R.E., El-Ansary, A. et al. Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers. Metab Brain Dis 32, 1983–1997 (2017). https://doi.org/10.1007/s11011-017-0085-2

Read Article

Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines

Frye, R.E., Rose, S., Wynne, R. et al. Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines. Sci Rep 7, 4478 (2017). https://doi.org/10.1038/s41598-017-04821-3

Read Article

Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines

Frye, R.E., Rose, S., Wynne, R. et al. Oxidative Stress Challenge Uncovers Trichloroacetaldehyde Hydrate-Induced Mitoplasticity in Autistic and Control Lymphoblastoid Cell Lines. Sci Rep 7, 4478 (2017). https://doi.org/10.1038/s41598-017-04821-3

Read Article

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. The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder. J. Clin. Med. 2017, 6, 18. https://doi.org/10.3390/jcm6020018

Read Article

Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study

Rose S, Bennuri SC, Wynne R, Melnyk S, James SJ, Frye RE. Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study. FASEB J. 2017 Mar;31(3):904-909. doi: 10.1096/fj.201601004R. Epub 2016 Nov 18. PMID: 27864377; PMCID: PMC5354548.

Read Article

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. Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines. Transl Psychiatry. 2016 Oct 25;6(10):e927. doi: 10.1038/tp.2016.189. PMID: 27779624; PMCID: PMC5290345.

Read Article

Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study

Rose S, Bennuri SC, Wynne R, Melnyk S, James SJ, Frye RE. Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study. FASEB J. 2017 Mar;31(3):904-909. doi: 10.1096/fj.201601004R. Epub 2016 Nov 18. PMID: 27864377; PMCID: PMC5354548.

Read Article

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

Niyazov DM, Kahler SG, Frye RE. Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Mol Syndromol. 2016 Jul;7(3):122-37. doi: 10.1159/000446586. Epub 2016 Jun 3. PMID: 27587988; PMCID: PMC4988248.

Read Article

Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome

Frye, R., Cox, D., Slattery, J. et al. Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome. Sci Rep 6, 19544 (2016). https://doi.org/10.1038/srep19544

Read Article

Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder

Frye RE. Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder. Epilepsy Behav. 2015 Jun;47:147-57. doi: 10.1016/j.yebeh.2014.08.134. Epub 2014 Nov 4. PMID: 25440829.

Read Article

Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome

Richard E. Frye, Shannon Rose, John Slattery & Derrick F. MacFabe (2015) Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome, Microbial Ecology in Health and Disease, 26:1, DOI: 10.3402/mehd.v26.27458

Read Article

Mitochondrial Dysfunction in Autism Spectrum Disorder

Frye, RE. The Autism File: Biomedical Update. 2015. pp. 28-34.

Read Article

Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism

Rossignol DA, Frye RE. Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism. Front Physiol. 2014 Apr 22;5:150. doi: 10.3389/fphys.2014.00150. PMID: 24795645; PMCID: PMC4001006.

Read Article

Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort

Rose S, Frye RE, Slattery J, Wynne R, Tippett M, Pavliv O, Melnyk S, James SJ. Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort. PLoS One. 2014 Jan 8;9(1):e85436. doi: 10.1371/journal.pone.0085436. PMID: 24416410; PMCID: PMC3885720.

Read Article

Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort.

Rose S, Frye RE, Slattery J, Wynne R, Tippett M, Pavliv O, Melnyk S, James SJ. Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohort. PLoS One. 2014 Jan 8;9(1):e85436. doi: 10.1371/journal.pone.0085436. PMID: 24416410; PMCID: PMC3885720.

Read Article

Redox Metabolism Abnormalities in Autistic Children Associated with Mitochondrial Disease

Frye, R., DeLaTorre, R., Taylor, H. et al. Redox metabolism abnormalities in autistic children associated with mitochondrial disease. Transl Psychiatry 3, e273 (2013). https://doi.org/10.1038/tp.2013.51

Read Article

Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder

Frye, R., Melnyk, S. & MacFabe, D. Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. Transl Psychiatry 3, e220 (2013). https://doi.org/10.1038/tp.2012.143

Read Article

Mitochondrial Dysfunction in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis

Rossignol, D., Frye, R. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry 17, 290–314 (2012). https://doi.org/10.1038/mp.2010.136

Read Article

Mitochondrial disease in 22q13 duplication syndrome

Frye RE. Mitochondrial disease in 22q13 duplication syndrome. J Child Neurol. 2012 Jul;27(7):942-9. doi: 10.1177/0883073811429858. Epub 2012 Feb 28. PMID: 22378673.

Read Article

Substantial problems with measuring brain mitochondrial dysfunction in autism spectrum disorder using magnetic resonance spectroscopy

Rossignol, D.A., Frye, R.E. Substantial Problems with Measuring Brain Mitochondrial Dysfunction in Autism Spectrum Disorder Using Magnetic Resonance Spectroscopy. J Autism Dev Disord 42, 640–642 (2012). https://doi.org/10.1007/s10803-011-1276-z

Read Article

Mitochondrial Dysfunction and Autism Spectrum Disorders: A Simplified Approach

Rossignol, DA, Frye, RE. Autism Science Digest: The Journal of Autismone. 2011. pp. 21-27.

Read Article

Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders

Frye, R., Rossignol, D. Mitochondrial Dysfunction Can Connect the Diverse Medical Symptoms Associated With Autism Spectrum Disorders. Pediatr Res 69, 41–47 (2011).

Read Article

Developmental regression and mitochondrial dysfunction in a child with autism

Poling, J. S., Frye, R. E., Shoffner, J., & Zimmerman, A. W. (2006). Developmental regression and mitochondrial dysfunction in a child with autism. Journal of child neurology, 21(2), 170–172. https://doi.org/10.1177/08830738060210021401

Read Article