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.

Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?

TORRONI, ANTONIO;
2008-01-01

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.
2008
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
Esperti anonimi
Inglese
Internazionale
ELETTRONICO
131
4
e93
5
MITOCHONDRIAL DNA; HAPLOGROUPS; NEUROMYELITIS OPTICA; MITOCHONDRIAL DISEASES
http://brain.oxfordjournals.org/content/131/4/e93.long
7
info:eu-repo/semantics/article
262
Hudson, G; Mowbray, C; Elson, Jl; Jacob, A; Boggild, M; Torroni, Antonio; Chinnery, Pf
1 Contributo su Rivista::1.1 Articolo in rivista
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/119340
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