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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Citrate (si)-Synthase / metabolism
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DNA, Mitochondrial / analysis
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DNA, Mitochondrial / genetics*
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Female
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Gene Deletion
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Histocytochemistry
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Humans
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Indians, North American*
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Infant
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Liver / chemistry
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Liver / pathology
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Liver Diseases / epidemiology
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Liver Diseases / genetics*
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Liver Diseases / pathology
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NADH Dehydrogenase / metabolism
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Nervous System Diseases / epidemiology
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Nervous System Diseases / genetics*
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Prostaglandin-Endoperoxide Synthases / metabolism
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Succinate Cytochrome c Oxidoreductase / metabolism
Substances
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DNA, Mitochondrial
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Succinate Cytochrome c Oxidoreductase
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Prostaglandin-Endoperoxide Synthases
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NADH Dehydrogenase
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Citrate (si)-Synthase