Mark Tarnopolsky

Dr Mark Tarnopolsky

Co-Applicant

Professor of Pediatrics and Medicine, Director of Neuromuscular and Neurometabolic Clinic, McMaster University Medical Center

CEO/CSO Exerkine Corporation


NMD4C Involvement: Pillar 1: Preclinical Science

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Research Interests: Mitochondrial disease, Neurogenetic diagnostics, Neurometabolic disorders, MD therapeutics, Aging/sarcopenia, Obesity

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Biography

Dr. Tarnopolsky is a neuromuscular and neurometabolic clinician-scientist who received an MD and PhD (Cell Biology and Metabolism) from McMaster University.  He currently holds an endowed chair from McMaster Children’s Hospital Foundation in the area of neuromuscular and neurometabolic genetic disorders and follows over 1500 patients with myopathies, mitochondrial disorders and other neurogenetic disorders. He has published over 500 peer reviewed papers and has an h-index of 142.  His research focuses on pharmacological, nutraceutical and exercise therapies for neuromuscular and neurometabolic disorders, aging, obesity and other disorders that affect the mitochondria and muscle function.  He is the founder, CEO and CSO of Exerkine Corporation which is a bio-technology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy and mitochondrial disorders.


Recent Publications

Nava, C, Cogne, B, Santini, A, Leitão, E, Lecoquierre, F, Chen, Y et al.. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet. 2025. PMID:40379786

Krag, T, Nasho, E, Brady, L, Verebi, C, Leturcq, F, Malfatti, E et al.. Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. Hum Mutat. 2025.2025 9301465 PMID:40226307

Tsampalieros, A, McKim, D, Barrowman, N, Bijelic, V, Mah, JK, McMillan, HJ et al.. Lung Volume Recruitment and Quality of Life in Duchenne Muscular Dystrophy: Secondary Analysis of the STEADFAST Randomized Controlled Trial. Ann Am Thorac Soc. 2025. PMID:40185084

Ji, D, Mylvaganam, S, Ravi Chander, P, Tarnopolsky, M, Murphy, K, Carlen, P et al.. Mitochondria and oxidative stress in epilepsy: advances in antioxidant therapy. Front Pharmacol. 2024.15 1505867 PMID:40177125

Pentz, R, Hough, R, Li, C, Tarnopolsky, M, Jones, K, RamachandranNair, R et al.. Biallelic SCN1A variants with divergent epilepsy phenotypes. Seizure. 2025.127 88-93 PMID:40120363

Mikhail, AI, Ng, SY, Xhuti, D, Lesinski, MA, Chhor, J, Deguise, MO et al.. Skeletal Muscle Mitochondrial and Autophagic Dysregulation Are Modifiable in Spinal Muscular Atrophy. J Cachexia Sarcopenia Muscle. 2025.16 (1)e13701 PMID:39901351

Ivaniuk, A, Anselm, IA, Bowen, A, Cohen, BH, Eminoglu, FT, Estrella, J et al.. Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025.104 (4)e209779 PMID:39883904

Nilsson, MI, Xhuti, D, de Maat, NM, Hettinga, BP, Tarnopolsky, MA. Obesity and Metabolic Disease Impair the Anabolic Response to Protein Supplementation and Resistance Exercise: A Retrospective Analysis of a Randomized Clinical Trial with Implications for Aging, Sarcopenic Obesity, and Weight Management. Nutrients. 2024.16 (24) PMID:39771028

Antonio, J, Brown, AF, Candow, DG, Chilibeck, PD, Ellery, SJ, Forbes, SC et al.. Part II. Common questions and misconceptions about creatine supplementation: what does the scientific evidence really show?. J Int Soc Sports Nutr. 2025.22 (1)2441760 PMID:39720835

Karaa, A, Bertini, E, Carelli, V, Cohen, B, Ennes, GM, Falk, MJ et al.. Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet J Rare Dis. 2024.19 (1)431 PMID:39574155

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