Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

Antonella Spinazzola, Valeria Massa, Michio Hirano, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)315-318
Number of pages4
JournalNeuromuscular Disorders
Volume18
Issue number4
DOIs
Publication statusPublished - Apr 2008

Keywords

  • Mitochondrial DNA depletion syndrome
  • MPV17
  • Navajo neuro-hepatopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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