title: Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
abstract: Neuromyelitis optica (NMO) is an idiopathic demyelinating disease which predominantly affects the optic nerve and spinal cord. Multiplex NMO pedigrees have been reported but the genetic risk factors conferring this increased familial susceptibility have not yet been determined. OPA1 mutations have recently been identified in families with progressive visual failure and spastic paraparesis, raising the possibility that OPA1 genetic variants could contribute to the aetiology of NMO. We therefore screened for OPA1 in 32 patients with NMO. No pathogenic mutations were found, and none of the 13 single-nucleotide polymorphisms identified were associated with an increased risk of developing NMO.
authors.affiliation: Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: Kamil S
authors.initials: KS
authors.lastname: Sitarz
authors.forename: Patrick
authors.initials: P
authors.lastname: Yu-Wai-Man
authors.forename: Gavin
authors.initials: G
authors.lastname: Hudson
authors.forename: Anu
authors.initials: A
authors.lastname: Jacob
authors.forename: Mike
authors.initials: M
authors.lastname: Boggild
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D020558:GTP Phosphohydrolases / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009471:Neuromyelitis Optica / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human