Genetic variations within the OPA1 gene are not associated with neuromyelitis optica
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 r...
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| Published in: | Multiple sclerosis Vol. 18; no. 2; pp. 240 - 243 |
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| Main Authors: | , , , , , , |
| Format: | Journal Article |
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01-02-2012
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| 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. |
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| AbstractList | 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. 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. [PUBLICATION 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. |
| Author | Jacob, Anu Boggild, Mike Sitarz, Kamil S Yu-Wai-Man, Patrick Chinnery, Patrick F Hudson, Gavin Horvath, Rita |
| AuthorAffiliation | 1 Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK 3 The Walton Centre for Neurology and Neurosurgery, Liverpool, UK |
| AuthorAffiliation_xml | – name: 1 Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, UK – name: 3 The Walton Centre for Neurology and Neurosurgery, Liverpool, UK – name: 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/21828197$$D View this record in MEDLINE/PubMed |
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| Keywords | dominant optic atrophy Devic’s disease OPA1 demyelination mitochondria neuromyelitis optica |
| Language | English |
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| References | Jacob, Das, Boggild 2009; 80 Yu-Wai-Man, Griffiths, Gorman 2010; 133 Wingerchuk 2009; 286 Compston 2007; 130 Wingerchuk, Lennon, Pittock 2006; 66 Yu-Wai-Man, Griffiths, Chinnery 2011; 30 Hudson, Mowbray, Elson 2008; 131 Wingerchuk, Lennon, Lucchinetti 2007; 6 Baker, Fisher, Whittaker, Griffiths, Yu-Wai-Man, Chinnery 2011 Yu-Wai-Man, Stewart, Hudson 2010; 47 bibr10-1352458511416838 bibr5-1352458511416838 Jacob A (bibr4-1352458511416838) 2009; 80 bibr8-1352458511416838 bibr9-1352458511416838 bibr7-1352458511416838 bibr6-1352458511416838 bibr3-1352458511416838 bibr1-1352458511416838 bibr2-1352458511416838 |
| References_xml | – volume: 66 start-page: 1485 year: 2006 end-page: 1489 article-title: Revised diagnostic criteria for neuromyelitis optica publication-title: Neurology contributor: fullname: Pittock – volume: 133 start-page: 771 year: 2010 end-page: 786 article-title: Multi-system neurological disease is common in patients with OPA1 mutations publication-title: Brain contributor: fullname: Gorman – volume: 80 start-page: e1 year: 2009 article-title: Estimating the incidence and prevalence of neuromyelitis optica in the UK: extrapolating data from Merseyside publication-title: J Neurol Neurosurg Psychiatry contributor: fullname: Boggild – volume: 130 start-page: 1178 year: 2007 end-page: 1180 article-title: Complexity and heterogeneity in demyelinating disease publication-title: Brain contributor: fullname: Compston – year: 2011 article-title: Subclinical multi-system neurological disease in “pure” OPA1 autosomal dominant optic atrophy publication-title: Neurology contributor: fullname: Chinnery – volume: 286 start-page: 18 year: 2009 end-page: 23 article-title: Neuromyelitis optica: effect of gender publication-title: J Neurol Sci contributor: fullname: Wingerchuk – volume: 6 start-page: 805 year: 2007 end-page: 815 article-title: The spectrum of neuromyelitis optica publication-title: Lancet Neurol contributor: fullname: Lucchinetti – volume: 30 start-page: 81 year: 2011 end-page: 114 article-title: Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies publication-title: Prog Retinal Eye Res contributor: fullname: Chinnery – volume: 47 start-page: 120 year: 2010 end-page: 125 article-title: OPA1 increases the risk of normal but not high tension glaucoma publication-title: J Med Genet contributor: fullname: Hudson – volume: 131 start-page: e93 year: 2008 article-title: Does mitochondrial DNA predispose to neuromyelitis optica (Devic’s disease)? publication-title: Brain contributor: fullname: Elson – ident: bibr3-1352458511416838 doi: 10.1093/brain/awm092 – ident: bibr5-1352458511416838 doi: 10.1016/j.preteyeres.2010.11.002 – ident: bibr2-1352458511416838 doi: 10.1212/01.wnl.0000216139.44259.74 – ident: bibr1-1352458511416838 doi: 10.1016/S1474-4422(07)70216-8 – volume: 80 start-page: e1 year: 2009 ident: bibr4-1352458511416838 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.2007.136432 contributor: fullname: Jacob A – ident: bibr8-1352458511416838 doi: 10.1016/j.jns.2009.08.045 – ident: bibr9-1352458511416838 doi: 10.1093/brain/awm224 – ident: bibr10-1352458511416838 doi: 10.1136/jmg.2009.067512 – ident: bibr7-1352458511416838 doi: 10.1212/WNL.0b013e318230a15a – ident: bibr6-1352458511416838 doi: 10.1093/brain/awq007 |
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| Snippet | Neuromyelitis optica (NMO) is an idiopathic demyelinating disease which predominantly affects the optic nerve and spinal cord. Multiplex NMO pedigrees have... |
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| SubjectTerms | 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 |
| Title | Genetic variations within the OPA1 gene are not associated with neuromyelitis optica |
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