title: A cytoskeleton motor protein genetic variant may exert a protective effect on the occurrence of multiple sclerosis: the janus face of the kinesin light-chain 1 56836CC genetic variant.
abstract: Although the main pathomechanism of multiple sclerosis (MS) is not known, an autoimmune response is presumed to involve its evolution and propagation. In this study, we examined how the kinesin light-chain 1 (KLC1) G56836C (rs8702) single nucleotide polymorphism (SNP) in intron 13 affects the occurrence of MS. This genetic variant was found to be associated with cognitive disturbances and neurodegeneration, and it was presumed to affect the kinesin function. Kinesin serves as a main cytoskeleton motor protein by carrying mitochondria and the molecular apparatus of myelin basic protein synthesis. The present association analysis of this genetic variant was performed in 102 relapsing-remitting MS patients and in 207 neuroimaging alteration-free controls. The KLC1 56836CC variant proved to exert a significant protective effect on the occurrence of MS (2.0% vs. 9.7%, P < 0.02; crude OR: 0.19, 95% CI: 0.04-0.82, P < 0.05; adjusted OR: 0.21, 95% CI: 0.018-0.88, P < 0.05). Our results draw attention to possible roles of the cytoskeleton in MS.
authors.affiliation: Department of Cerebrovascular Diseases, Pándy Kálmán County Hospital, Pipacs köz 9, Bekescsaba 5600, Hungary. szolnoki99@hotmail.com
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Szolnoki
authors.forename: Andras
authors.initials: A
authors.lastname: Kondacs
authors.forename: Yvette
authors.initials: Y
authors.lastname: Mandi
authors.forename: Ferenc
authors.initials: F
authors.lastname: Somogyvari
mesh_terms: D017398:Alternative Splicing; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007438:Introns; D053613:Janus Kinase 1 / Q000235:genetics; D016547:Kinesins; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008957:Models, Genetic; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics* / Q000517:prevention & control; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics; D012016:Reference Values
chemical_list: C000715688:KLC1 protein, human; D008869:Microtubule-Associated Proteins; D012333:RNA, Messenger; D004247:DNA; D053613:Janus Kinase 1; D016547:Kinesins