@article{1b301829518d4b58b12132613ecba346,
title = "Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?",
abstract = "Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical features of NNH are similar to those of patients with mitochondrial DNA (mtDNA) depletion. Therefore, we studied mtDNA concentration in the liver from 2 patients with NNH. Using histochemical, biochemical, and molecular techniques, we found evidence of mtDNA depletion, and we propose that the primary defect in NNH is in the nuclear regulation of mtDNA copy number.",
author = "Vu, {Tuan H.} and Kurenai Tanji and Holve, {Stephen A.} and Eduardo Bonilla and Sokol, {Ronald J.} and Snyder, {Russell D.} and Stephany Fiore and Deutsch, {Gail H.} and Salvatore DiMauro and {De Vivo}, Darryl",
note = "Funding Information: Abbreviations: NNH, Navajo neurohepatopathy; mtDNA, mitochondrial DNA; MDS, mitochondrial DNA depletion syndrome; FTT, failure to thrive; h-mtTFA, human mitochondrial transcription factor A; COX, cytochrome c oxidase; SDH, succinate dehydrogenase. From the 1Department of Neurology and H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY; 2Department of Pathology, Columbia University, New York, NY; 3Indian Health Service and Tuba City Indian Medical Center, Tuba City, AZ; 4Pediatric Liver Center and Liver Transplantation Program, Department of Pediatrics, The Children{\textquoteright}s Hospital and the University of Colorado School of Medicine, Denver, CO; 5Department of Neurology, University of New Mexico, Albuquerque, NM; 6Department of Pathology, University of Texas Southwestern Medical Center and Children{\textquoteright}s Medical Center of Dallas, Dallas, TX; 7Department of Pathology, University of Colorado Health Sciences Center and The Children{\textquoteright}s Hospital, Denver, CO; and 8Division of Child Neurology, Department of Neurology, Columbia University, New York, NY. Received November 13, 2000; accepted April 30, 2001. T.H.V. is supported by NIH Grant K08 NS01899 and a Florence and Herbert Irving Clinical Research Career Award. Address reprint requests to: Tuan H. Vu, M.D., Department of Neurology, Columbia University, P&S Building, Room 5-431, 630 W. 168th Street, New York, NY 10032. E-mail: thv3@aol.com; fax: 212-305-3986. Copyright {\textcopyright} 2001 by the American Association for the Study of Liver Diseases. 0270-9139/01/3401-0017$35.00/0 doi:10.1053/jhep.2001.25921",
year = "2001",
doi = "10.1053/jhep.2001.25921",
language = "English (US)",
volume = "34",
pages = "116--120",
journal = "Hepatology",
issn = "0270-9139",
publisher = "John Wiley and Sons Ltd",
number = "1",
}