Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

• Published in: Multiple sclerosis Vol. 18; no. 2; pp. 240 - 243
• Main Authors: Sitarz, Kamil S, Yu-Wai-Man, Patrick, Hudson, Gavin, Jacob, Anu, Boggild, Mike, Horvath, Rita, Chinnery, Patrick F
• Format: Journal Article
• Language: English
• Published: London, England SAGE Publications 01-02-2012; Sage Publications Ltd
• Subjects: Genetic Predisposition to Disease - epidemiology; Genetic Predisposition to Disease - genetics; Genetic Variation; Genotype; GTP Phosphohydrolases - genetics; Humans; Neuromyelitis Optica - epidemiology; Neuromyelitis Optica - genetics; Polymorphism, Single Nucleotide - genetics; Risk Factors; dominant optic atrophy; Devic’s disease; OPA1; demyelination; mitochondria; neuromyelitis optica
• ISSN: 1352-4585; 1477-0970
• DOI: 10.1177/1352458511416838

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.