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

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 MPV17 gene. The syndrome has now been recognized world-wide. We find that huge quantities of neurotoxins were present in archived nervous tissues from such patients. Arsenic was increased 18 ×, cadmium ~ 10 ×, cobalt 2.5 × and manganese 2.3 ×; the largest increase was in mercury content 16,000 × compared to contemporaneous fresh-frozen normal nervous tissues. In the Four Corner's region of NM the life span is reduced compared to other parts of the United States and in our patients with MPV17-NNH the ave

SUBMITTER: Qualls C 

PROVIDER: S-EPMC5818138 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature