Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?

Tuan H. Vu, Kurenai Tanji, Stephen A. Holve, Eduardo Bonilla, Ronald J. Sokol, Russell D. Snyder, Stephany Fiore, Gail H. Deutsch, Salvatore DiMauro, Darryl De Vivo

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)116-120
Number of pages5
Issue number1
StatePublished - 2001
Externally publishedYes

ASJC Scopus subject areas

  • Hepatology


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