title: Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.
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.
authors.affiliation: Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, C. Besta Neurological Institute Foundation, via Temolo 4, 20126 Milano, Italy. spinazzola@istituto-besta.it
authors.forename: Antonella
authors.initials: A
authors.lastname: Spinazzola
authors.forename: Valeria
authors.initials: V
authors.lastname: Massa
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
mesh_terms: D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007198:Indians, North American; D007558:Italy / Q000208:ethnology; D026901:Membrane Transport Proteins / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D062806:Myelin and Lymphocyte-Associated Proteolipid Proteins; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011510:Proteolipids / Q000235:genetics*
chemical_list: C569026:MAL protein, human; D026901:Membrane Transport Proteins; D009185:Myelin Proteins; D062806:Myelin and Lymphocyte-Associated Proteolipid Proteins; D011510:Proteolipids