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

TitleLack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.
Publication TypeJournal Article
Year of Publication2008
AuthorsSpinazzola, A, Massa, V, Hirano, M, Zeviani, M
JournalNeuromuscul Disord
Volume18
Issue4
Pagination315-8
Date Published2008 Apr
ISSN0960-8966
KeywordsChromosomes, Human, Pair 2, DNA Mutational Analysis, Humans, Indians, North American, Italy, Membrane Transport Proteins, Mitochondrial Diseases, Myelin and Lymphocyte-Associated Proteolipid Proteins, Myelin Proteins, Polymorphism, Single Nucleotide, Proteolipids
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.

DOI10.1016/j.nmd.2007.12.007
Alternate JournalNeuromuscul. Disord.
Citation Key10.1016/j.nmd.2007.12.007
PubMed ID18261905
Grant ListGGP07019 / / Telethon / Italy