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dc.contributor.authorKhaiboullina Svetlana F
dc.contributor.authorMendelevich Elena G
dc.contributor.authorShigapova Leyla H
dc.contributor.authorShagimardanova Elena
dc.contributor.authorGazizova Guzel
dc.contributor.authorNikitin Alexey
dc.contributor.authorMartynova Ekaterina
dc.contributor.authorDavidyuk Yuriy N
dc.contributor.authorBogdanov Enver I
dc.contributor.authorGusev Oleg
dc.contributor.authorvan den Maagdenberg Arn MJM
dc.contributor.authorGiniatullin Rashid A
dc.contributor.authorRizvanov Albert A
dc.date.accessioned2017-12-18T13:51:32Z
dc.date.available2017-12-18T13:51:32Z
dc.date.issued2017
dc.identifier.urihttps://erepo.uef.fi/handle/123456789/5104
dc.description.abstractBackground: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of cytokines activated in various forms of migraine, including those with a known genetic cause, can help in diagnostic and therapeutic approaches. Methods: Here we (i) performed exome sequencing to identify the causal gene mutation and (ii) measured, using Bio-Plex technology, 22 cytokines in serum of patients with familial migraine (two with hemiplegic migraine and two with migraine with aura) from a Russian family that ethnically belongs to the Tatar population. MRI scanning was used to assess cerebellar atrophy associated with migraine in mutation carriers. Results: Whole-exome sequencing revealed the R583Q missense mutation in the CACNA1A gene in the two patients with hemiplegic migraine and cerebellar ataxia with atrophy, confirming a FHM1 disorder. Two further patients did not have the mutation and suffered from migraine with aura. Elevated serum levels of pro-inflammatory and pro-nociceptive IL-6 and IL-18 were found in all four patients (compared to a reference panel), whereas pro-apoptotic SCGF-β and TRAIL were higher only in the patients with the FHM1 mutation. Also, cytokines CXCL1, HGF, LIF, and MIF were found particularly high in the two mutation carriers, suggesting a possible role of vascular impairment and neuroinflammation in disease pathogenesis. Notably, some “algesic” cytokines, such as β-NGF and TNFβ, remained unchanged or even were down-regulated. Conclusion: We present a detailed genetic, neurological, and biochemical characterization of a small Russian FHM1 family and revealed evidence for higher levels of specific cytokines in migraine patients that support migraine-associated neuroinflammation in the pathology of migraine.en
dc.language.isoENen
dc.publisherFrontiers Media SAen
dc.relation.ispartofseriesFrontiers in Cellular Neuroscienceen
dc.relation.urihttp://dx.doi.org/10.3389/fncel.2017.00263en
dc.rightsCC BY http://creativecommons.org/licenses/by/4.0/en
dc.subjectmigraineen
dc.subjectFHM1en
dc.subjectcytokinesen
dc.subjectinflammationen
dc.subjectnociceptionen
dc.titleCerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Familyen
dc.description.versionpublished versionen
dc.contributor.departmentA.I. Virtanen -instituuttien
uef.solecris.id49195990en
dc.type.publicationinfo:eu-repo/semantics/articleen
dc.rights.accessrights© Authorsen
dc.relation.doi10.3389/fncel.2017.00263en
dc.description.reviewstatuspeerRevieweden
dc.relation.articlenumber263en
dc.relation.issn1662-5102en
dc.relation.volume11en
dc.rights.accesslevelopenAccessen
dc.type.okmA1en
dc.type.versioninfo:eu-repo/semantics/publishedVersionen
uef.solecris.openaccessOpen access -julkaisukanavassa ilmestynyt julkaisu


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