Research Faculty

630 W 168th Street
P&S 17-401
New York, NY 10032

Phone: 212-305-1476
Fax: 212-342-0420
Education and Training
MS London University, England
Ph.D. Surrey University, England
Post-doctoral Fellow Clinical Research Center, P&S, Columbia University, New York

Board Certiifications
Diplomat, American Board of Clinical Chemistry 1994
American Society of Clinical Pathologists 1990
National Registry in Clinical Chemistry: Clinical Chemist 1989


Drs. Salvatore DiMauro; Michio Hirano; Hiroshi Mitsumoto; Serge Przedborski
Ali B. Naini, M.Sc., Ph.D.
Associate Professor of Pathology & Cell Biology (in Neurology) at CUMC
Director, Laboratories of Metabolic and Mitochondrial Diseases, Departments of Pathology & Cell Biology and Neurology
Co-Director, Laboratory of Personalized Genomic Medicine
Research Summary

Dr. Ali Naini is Associate Professor of Clinical Pathology and Cell Biology and Director of Laboratory of Molecular Neurogenetics in the Department of Neurology and a member of Houston Merritt Center for Clinical Research. Dr. Naini's research interests include molecular pathogenesis of neurodegenerative diseases and primary CoQ defeiciency. In collaboration with Drs. Hiroshi Mitsumoto, Michio Hirano, and Serge Przedborski, Dr. Naini studies patients affected with amyotrophic lateral sclerosis (Lou Gehrig's Disease) harboring mutations in their Cu/Zn superoxide dismutase gene. In collaboration with Drs. Savatore DiMauro, and Michio Hirano, he also studies patients with mitochondrial encephalomyopathy due to primary CoQ deficiency. Dr. Naini is board certified clinical biochemist and molecular geneticist. He received his graduate training at London University and University of Surrey in the United Kingdom. Dr. Naini joined Neuromuscular group at Houston Merritt Center in 1997 as the director of the Laboratory of Molecular Neurogenetics and Mitochondrial Diseases. Dr. Naini is a regular reviewer of several international journals and is author and co-author of numerous publications related to the pathogenesis and molecular aspects of neurological diseases.

Service Activities

Directing Mitochondrial laboratory and Neurogenetics molecular testing in the Laboratory of Personalized Genomic Medicine
Selected Publications

Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. Molecular Genetics and Metabolism Reports 2017;12:23-27.

Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, Krishna S, Naini A, Quinzii CM, Hirano M: A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder. J Child Neurol 2017, 32:246-50.

Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB: Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. Eur J Med Genet 2016.

Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH: Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. Mol Genet Metab 2016, 118:28-34.

Garcia-Diaz B, Barca E, Balreira A, Lopez LC, Tadesse S, Krishna S, Naini A, Mariotti C, Castellotti B, Quinzii CM: Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. Hum Mol Genet 2015, 24:4516-29.

Current Projects

Mitochondrial Encephalopathies: Approaches to treatment
Molecular Pathogenesis of Coenzyme Q10 Deficiency

Committees , Council, and Professional Society Memberships

The American Society of Human Genetics

The Association for Molecular Pathology

Contact the Pathology Webmaster at