Kurenai Tanji, MD, PhD
Overview
Dr. Tanji obtained the medical degree and training in pathology at Kinki University School of Medicine, Osaka, Japan, and joined Department of Neurology, Columbia University as a post-doctoral research fellow in 1991, studying muscle biology in the fields of Duchenne muscular dystrophy and mitochondrial encephalomyopathy.
In 2000, she moved to Department of Pathology & Cell Biology, Columbia University, to repeat the pathology residency in the United States, followed by the neuropathology fellowship, and joined the pathology faculty in 2004. She has been actively involved in the clinical service of neuropathology, especially in the neuromuscular pathology, collaborative research works in muscular dystrophy and mitochondrial disease, and medical and post-graduate education. She has been serving as the director of the Laboratory of Neuromuscular Pathology, Department of Pathology & Cell Biology, since 2008.
Email: kt8@cumc.columbia.edu
Academic Appointments
- Professor of Pathology and Cell Biology (in Neurology)
Hospital Affiliations
- NewYork-Presbyterian / Columbia University Irving Medical Center
Languages
- Japanese
Gender
- Female
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Credentials & Experience
Education & Training
- Kinki University School of Medicine, Japan
- PhD, Kinki University School of Medicine, Osaka, Japan,
- Residency: NewYork-Presbyterian Hospital/Columbia University Medical Center
- Fellowship: NewYork-Presbyterian Hospital/Columbia University Medical Center
Committees, Societies, Councils
American Association of Neuropathologists
Board Certifications
- Neuropathology
- Anatomic Pathology
Research
Research Interests
- Molecular Pathology of Mitochondrial Disease
Selected Publications
Sancho S, Moraes CT, Tanji K, DiMauro S, Miranda AF. Structural and functional abnormalities associated with high levels of partially deleted mitochondrial DNAs in somatic cell hybrids. Somat. Cell Mol. Genet. 1992;18:431-442.
Sancho S, Mongini T, Tanji K, Tapscolt SJ, Walker WF, Weintraub H, Miller DA, Miranda AF. Dystrophin analysis after forced activation of myogenesis in amniocytes, chorionic villi, and fibroblasts: a new diagnostic method for Duchenne muscular dystrophy. N. Eng. J. Med. 1993;329:915-920.
Tanji K, Sancho S, Miranda AF. Innervation of MyoD converted human amniocytes and fibroblasts by fetal rodent spinal cord neurons. Neuromusc. Disord.1994;4:317-324.
Bohlega S, Tanji K, Santorelli FM, Hirano M, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46:1329-1334.
Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, Griggs RC, Mendell JR, Hays AP, Bertorini TE, Pestronk A, Bonilla E, DiMauro S. Multiple mitochondrial DNA deletions in sporadic inclusion-body myositis. A study of 56 patients. Ann. Neurol. 1996;39:789-795.
Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Ann. Neurol. 1999;45:377-383.
Tanji K, DiMauro S, Bonilla E. Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. J. Neurol. Sci. 1999;166:64-70.
Andreu AL, Hanna MG, Reichman H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S. Exercise intolerance and mutations in the cytochrome b gene of mitochondrial DNA. N. Eng. J. Med. 1999;341:1037-1044.
Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J, Selby J, Moira Glerum D, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo D, Bonilla E, Hirano M, DiMauro S, Schon EA. Fatal infantile cardioencephalopathy with cytochrome c oxidase (COX) deficiency and mutations in SCO2, a human COX assembly gene. Nature Genet. 1999;23:333-337.
Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Palotti F, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann. Neurol. 2000;47:589-595.
Tanji K, Bonilla E. Neuropathologic aspects of cytochrome c oxidase deficiency. Brain Pathol. 2000;10:422-430.
Tanji K, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: oncocytic transformation of choroid plexus epithelium. J. Neurol. Sci. 2000;178:29-36.
Nishino I, Fu J, Tanji K, Yamada T. Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Murakami N, Shanske S, Byrne E. Bonilla E, Nonaka I, DiMauro S, Hirano M. Primary LAMP-2 deficiency causes vacuolar cardiomyopathy, myopathy and mental retardation (Danon's disease). Nature 2000;406:906-910.
Vu TH, Tanji K, Holve SA, Bonilla E, Sokol RJ, Snyder RD, Fiore S. Deutsch GH, DiMauro S, De Vivo D. Navajo neurohepathopathy: A mitochondrial DNA depletion syndrome? Hepatology 2001;34(1):116-120.
Tanji K, Gamez J, Cervera C, Mearin F, Ortega A, Torre J, Montoya J, Andreu AL, DiMauro S, Bonilla E. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction. Acta Neuropathol. 2003;105:69-75.
Tanji K, Bhagat G, Monzon BS, Bonilla E, Lefkowitch JH. Oncocytic hepatocytes; Are they a consequence of mitochondrial dysfunction. Liver Int. 2003;13:1-7.
Karadimas CL, Vu TH, Holve SA, Quinzii C, Tanji K, Bonilla E, DeVivo DC, Dimauro S, Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am. J. Hum. Genet. 2006;79:544-548.
Quinzii CM, Vu TH, Min C, Tanji K, Barral A, Grewal R, Kattah A, Camano P, Otaegui D, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four and an half LIM protein 1 (FHL1). Am. J. Hum. Genet. 2008; 82(1):208-213.
Akman H, Dorado B, Lopez LC, Garcia-Cazorla A, Vila MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenace. Hum Mol Genet 2008; 17(16): 2433 - 2440.
Tanji K, Bonilla E. Light microscopic methods to visualize mitochondria on tissue sections. Methods 2008; 46(4): 274 - 280.
Lopez LC, Akman HO, Garcia-Cazorla A, Dorado B, Marti R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Tanji K, Hirano M. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet 2009; 18(4): 714-722.
Emmanuele V, Garcia-Cazorla A, Huang HB, Coku J, Dorado B, DiMauro S, Tanji K. Decreased hippocampal expression of calbindin D28KD and cognitive impairment in MELAS. J Neurol Sci 2012; 317:29-34.
Garone C, Rubio JC Calvo SE, Naini A, Tanji K, DiMauro S, Mootha VK, Hirano M. MPV 17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions. Arch Neurol 2012; 69(12): 1648-1651.
Melia M, Kubota A, Ortolano S, Vilchez JJ, Gamez J, Tanji K, Bonilla E, Palenzuela Lluis, Fernandez-Cadenas I, Pristoupilava A, Garcia-Arumi E, Andreu LA, Navaro C, Hirano M and Marti R. Limb-girdle muscular sytrophy1F (LGMD1F) is casued by a microdeletion in the transporin-3 gene. Brain 2013; 136(Pt5):1508-17.
Shin JY, Mendez-Lopez I, Wang Y, Hays AP, Tanji K, Lefkowitch JH, Shultz PC, Worman HJ, Dauer WT. Lamina-associated Polypeptide-1 Interacts with the Muscular Dystrophy Protein Emerin and is Essential for Skeletal Muscle Maintenance. Develpmental Cell 2013; 26: 591-603.
Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F Quinzii CM, Hirano M. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol Med 2014; 6(8) :1016-1027.
Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F, Quinzii CM, Hirano M. Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Brain 2014; 137:1337-49.
Emmanuele V, Kubota A, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero L, Kariya S, Homma S, Tanji K, Hirano M, Quinzzi C. Fhl1 W122S causes loss of protein function and late-onset mild myopathy. Hum Mol Genet 2015; 24(3): 714-726.