Navajo neurohepatopathy is a hepato-cerebral variant of mitochondrial DNA depletion syndrome due to a specific mutation in MPV17, a gene located on human chromosome 2p. The same mutation was reported in an Italian family. To understand whether the MPV17 mutation was transmitted by descent from a common ancestor to Navajos and Italians we constructed a dense haplotype of the MPV17 locus using suitable single nucleotide polymorphisms. Complete discordance between Italian and Navajo haplotypes rules out the former hypothesis, suggesting that the mutation occurred independently in the two populations.
- Mitochondrial DNA depletion syndrome
- Navajo neuro-hepatopathy
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience