Publication Date:
2008
abstract:
Neuromyelitis optica (NMO) has similarities with Leber hereditary optic neuropathy (LHON, MIM 535 000) which is primarily due to mutations of mitochondrial DNA (mtDNA) that disrupt complex I of the respiratory chain. In this study, we found no evidence to support the hypothesis that ancient mtDNA polymorphisms are associated with or predispose to NMO. A study of this size cannot exclude a subtle increased susceptibility, especially if conferred by rare mtDNA variants in a region not directly sequenced here. However, this would be very difficult to demonstrate, given the rarity of NMO and the samples sizes required to show a convincing association between mtDNA variants and a complex disease.
Iris type:
1.1 Articolo in rivista
Keywords:
MITOCHONDRIAL DNA; HAPLOGROUPS; NEUROMYELITIS OPTICA; MITOCHONDRIAL DISEASES
List of contributors:
Hudson, G; Mowbray, C; Elson, Jl; Jacob, A; Boggild, M; Torroni, Antonio; Chinnery, Pf
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