Mary C. Maj, PhD
Professor, Biochemistry
Biography
Dr. Mary Maj is a Professor in the Department of Biochemistry and manager of the Genetics content taught in the School of Medicine. Dr. Maj received her PhD. in Biochemistry from McMaster University studying enzyme kinetics and the effects of pathogenic mutations on enzyme activity, and performed her post-doctoral experience at the Hospital for Sick Children in Toronto, Ontario, where she trained with Genetic Metabolic fellows and Genetic Counsellor Trainees. During her fellowship, she studied the genetic causes of inborn errors of metabolism and has published a number of research papers and clinical reports on mitochondrial disorders. Dr. Maj also designed a number of rapid genetic tests to screen for private familial mutations for genotyping purposes for humans and animal models of human diseases, as well as developing an in-cell assay for cultured human fibroblasts obtained by skin biopsy of patients being assessed for electron chain activity and cellular energy production. This in-cell assay was ultimately used to identify off-label activities of FDA approved pharmaceuticals and phytochemicals to stimulate electron transport activity and/or mitochondrial proliferation.
Contact Information
(473) 439-2000 ext. 3169
Areas of Interest
- Mitochondrial dysregulation in human disease
- Inborn errors of metabolism
- Oxidative phosphorylation
- Regulation of pyruvate dehydrogenase
- Reactive oxygen species in Parkinson’s disease
- Role of adenosine kinase in epileptogenesis
Affiliations
No affiliations provided.
Selected Publications
- N. Khindri, MC Maj (2025) Manganese-Induced Parkinsonism: A Review of Etiologies and Treatments. Degenerative Neurological and Neuromuscular Disease. 15:65-79 DOI: 10.2147/DNND.S48201
- T. Coffin, J. Wray, R. Sah, M. Maj, R. Nath, S. Nauhria, S. Maity, S. Hauhuria (2023) A review and meta-analysis of the prevalence and health impact of polycystic ovary syndrome among medical and dental students. In: Cureus, 15(6) e40141 doi: 10.7759/cureus.40141
- S. Maity, S. Nauhria, N. Nayak, T. Coffin, J. Wray, S. Haeriandardakani, R. Sah. A. Spruce, Y. Jeong, MC. Maj, A. Sharma, N. Okpara, CJ. Ike, R. Nath, J. Nelson and AV. Parwani (2023) Virtual versus light microscopy usage among students: A systematic review and meta-analytic evidence in Medical Eduction. Diagnostics (Basel). PMID 36766660.
- Parminder Nain, Narendra Nayak, Mary Maj, Rohit Kumar Singh, Jaspreet Kaur, Yujin Jeong, Sabyasachi Maity, Reetuparna Nath, Rob Hilgers, Shreya Nauhria and Samal Nauhria (2023) Efficacy of lanthanum carbonate and sevelamer carbonate as phosphate binders in chronic kidney disease – A comparative clinical study. Pharmacy, First 3 authors had equal contribution and considered first authors. PMID 36827665.
- M.Maj, CL. Taylor, K. Landau, H. Toriello, D. Li, E. Bhoh,B. Nelson, H. Hakonarson, S. Gluschitz, R. Walker, A. Sobering (2022) A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual. Molecular Genetics & Genomic Medicine, Online ahead of print. PMID 36148638.
- L. Clunes, N. McMillan-Castanares, N. Mehta, A. Mesadieu, J. Rogriquez, M. Maj, M. T. Clunes (2020) Epithelial vectorial ion transport in cystic fibrosis: dysfunction, measurement and pharmacotherapy to target the primary deficit. SAGE Open Med. 2020 Jun 25;8:2050312120933807. doi: 10.1177/2050312120933807.
- A. Wardeh, T. Jackson, B. Nelson, C. Ernst, J.F. Théroux, W. Al-Hertani, A. K. Sobering1, and M. C. Maj, (2018) Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care. Clinical Case Report. 6(11): 2256-2261.
- M.D. Thompson, T. Sakurai, I. Rainero, M.C. Maj and J.P. Kukkonen. (2017) Orexin Receptor Multimerization versus Functional Interactions: Neuropharmacological Implications for Opioid and Cannabinoid Signaling and Pharmacogenetics. Pharmaceuticals (Basel). 2017 Oct 8;10(4). pii: E79
- M.C. Maj, N. Sriskandarajah, V. Hung, I. Browne, B. Shah, A. Weadge, N. Jamieson, M. Tropak¬, J. Cameron, J. Addis, B.H. Robinson (2010) Identification of Drug Candidates Which Increase Cytochrome c Oxidase Activity in Deficient Patient Fibroblasts. Mitochondrion. (2011) Mar;11(2):264-72.
- M.C. Maj, N. MacKay, V Levandovskiy, J. Addis, E.R. Baumgartner, M.R. Baumgartner, B.H. Robinson, J.M. Cameron (2005) Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 90(7):4101-7.
Selected Projects
- Tosin Aluko, 2025 MSRI student and we been granted IRB to survey Diabetic Foot Care and take photographs of persons with foot wounds as complications of Diabetes to enhance the ability of AI to detect early stages of foot ulcers as the database is predominantly pictures of light colored skin.
- Daniel Gruber, Alec Carson, Pravjot Gill and Khushi Kothari, Term 1 students interested in collecting data on hobbies that help medical students relieve stress, beginning with Sudoku. This will be a long-range study following this group from Term 1 through to residency
SVM Research Faculty
View the SVM faculty involved in research and SVM Adjunct and Cooperating faculty who collaborate with SVM researchers. SVM faculty also collaborate with many other researchers at institutions in North and South America, Europe, Africa and Asia. These collaborations are reflected within the individual SVM faculty research profile.
