dc.contributor.author | Khaiboullina Svetlana F | |
dc.contributor.author | Mendelevich Elena G | |
dc.contributor.author | Shigapova Leyla H | |
dc.contributor.author | Shagimardanova Elena | |
dc.contributor.author | Gazizova Guzel | |
dc.contributor.author | Nikitin Alexey | |
dc.contributor.author | Martynova Ekaterina | |
dc.contributor.author | Davidyuk Yuriy N | |
dc.contributor.author | Bogdanov Enver I | |
dc.contributor.author | Gusev Oleg | |
dc.contributor.author | van den Maagdenberg Arn MJM | |
dc.contributor.author | Giniatullin Rashid A | |
dc.contributor.author | Rizvanov Albert A | |
dc.date.accessioned | 2017-12-18T13:51:32Z | |
dc.date.available | 2017-12-18T13:51:32Z | |
dc.date.issued | 2017 | |
dc.identifier.uri | https://erepo.uef.fi/handle/123456789/5104 | |
dc.description.abstract | Background: 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.iso | EN | en |
dc.publisher | Frontiers Media SA | en |
dc.relation.ispartofseries | Frontiers in Cellular Neuroscience | en |
dc.relation.uri | http://dx.doi.org/10.3389/fncel.2017.00263 | en |
dc.rights | CC BY 4.0 | |
dc.subject | migraine | en |
dc.subject | FHM1 | en |
dc.subject | cytokines | en |
dc.subject | inflammation | en |
dc.subject | nociception | en |
dc.title | Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family | en |
dc.description.version | published version | en |
dc.contributor.department | A.I. Virtanen -instituutti | en |
uef.solecris.id | 49195990 | en |
dc.type.publication | info:eu-repo/semantics/article | en |
dc.relation.doi | 10.3389/fncel.2017.00263 | en |
dc.description.reviewstatus | peerReviewed | en |
dc.relation.articlenumber | 263 | en |
dc.relation.issn | 1662-5102 | en |
dc.relation.volume | 11 | en |
dc.rights.accesslevel | openAccess | en |
dc.type.okm | A1 | en |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
uef.solecris.openaccess | Open access -julkaisukanavassa ilmestynyt julkaisu | |
dc.rights.copyright | © Authors | |
dc.type.displayType | article | en |
dc.type.displayType | artikkeli | fi |
dc.rights.url | https://creativecommons.org/licenses/by/4.0/ | |