Display options
Share it on

eNeurologicalSci. 2016 Jan 28;2:8-13. doi: 10.1016/j.ensci.2016.01.004. eCollection 2016 Mar.

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited.

eNeurologicalSci

Clifford Qualls, Mario Kornfeld, Nancy Joste, Abdul-Mehdi Ali, Otto Appenzeller

Affiliations

  1. Department of Mathematics and Statistics, University of New Mexico, Albuquerque, NM 87122, United States.
  2. Department of Pathology, University of New Mexico School of Medicine, Albuquerque, NM 87122, United States.
  3. Department of Earth and Planetary Sciences, University of New Mexico, Albuquerque, NM 87122, United States.
  4. Department of Neurology, NMHEMC Research Foundation, Albuquerque, NM 87122, United States.

PMID: 29473055 PMCID: PMC5818138 DOI: 10.1016/j.ensci.2016.01.004

Abstract

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (previously known as Navajo neurohepatopathy) was discovered in children in the Four Corner's region of New Mexico approximately 40 years ago. This disease is associated with a single missense mutation in exon 2 in the

Keywords: Anthropocene; Arsenic; Gene mutations; Lead; MPV17-related hepatocerebral mitochondrial DNA depletion syndrome; Mercury; Neurotoxins; Selenium

References

  1. J Biomed Biotechnol. 2012;2012:472858 - PubMed
  2. Mol Biol Evol. 2015 Jun;32(6):1544-55 - PubMed
  3. J Pediatr. 1999 Oct;135(4):482-93 - PubMed
  4. Genet Med. 2010 Sep;12(9):573-86 - PubMed
  5. Environ Mol Mutagen. 2014 Jan;55(1):43-50 - PubMed
  6. Rev Environ Health. 1997 Jul-Sep;12(3):147-57 - PubMed
  7. Environ Pollut. 1988;54(2):109-22 - PubMed
  8. Nat Genet. 2006 May;38(5):570-5 - PubMed
  9. Neurology. 2008 Jun 10;70(24):2343-4 - PubMed
  10. Neurology. 1990 Feb;40(2):363-7 - PubMed
  11. Environ Microbiol Rep. 2013 Jun;5(3):444-52 - PubMed
  12. Genome Biol. 2015 Jan 30;16:25 - PubMed
  13. Neurology. 1993 Jun;43(6):1120-5 - PubMed
  14. Sci Total Environ. 2013 Apr 15;450-451:59-71 - PubMed
  15. Sci Total Environ. 2005 Jan 20;337(1-3):91-107 - PubMed
  16. Arch Neurol. 1976 Nov;33(11):733-8 - PubMed
  17. J Toxicol Clin Toxicol. 1990;28(3):267-86 - PubMed
  18. J Inherit Metab Dis. 2009 Apr;32(2):143-58 - PubMed
  19. Toxicology. 2004 May 20;198(1-3):91-115 - PubMed
  20. Am J Hum Genet. 2006 Sep;79(3):544-8 - PubMed

Publication Types