Novel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis

Basit Öğe Kaydı
dc.contributor.authorYalın, Osman Özgür
dc.contributor.authorGökdoğan Edgünlü, Tuba
dc.contributor.authorKarakaş Çelik, Sevim
dc.contributor.authorEmre, Ufuk
dc.contributor.authorGüneş, Taşkın
dc.contributor.authorErdal, Yüksel
dc.contributor.authorEroğlu Ünal, Aysun
dc.date.accessioned2022-05-11T14:40:12Z
dc.date.available2022-05-11T14:40:12Z
dc.date.issued2019
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nöroloji Ana Bilim Dalı
dc.description.abstractBackground: It is well known that axonal degeneration plays a role in disability in patients with multiple sclerosis, and synaptopathy has recently become an important issue.Aims: To investigate the possible roles of selected synaptic and presynaptic membrane protein genetic polymorphisms (VAMP2, SNAP-25, synaptotagmin, and syntaxin 1A) in patients with multiple sclerosis.Study Design: Case-control study.Methods: A total of 123 patients with multiple sclerosis and 192 healthy controls were included. The functional polymorphisms of specific SNARE complex proteins (VAMP2, synaptotagmin XI, syntaxin 1A, and SNAP-25) were analyzed by polymerase chain reaction.Results: Significant differences were detected in the genotype and allele distribution of 26-bp Ins/Del polymorphisms of VAMP2 between patients with multiple sclerosis and control subjects; Del/Del genotype and Del allele of VAMP2 were more frequent in patients with multiple sclerosis (p=0.011 and p=0.004, respectively). Similarly, Ddel polymorphism of SNAP-25 gene C/C genotype (p=0.059), syntaxin 1A T/C and C/C genotypes (p=0.005), and synaptotagmin XI gene C allele (p=0.001) were observed more frequently in patients with multiple sclerosis. CC, syntaxin rs1569061 1A gene for 33-bp promoter region TC haplotypes, and synaptotagmin XI gene were found to be associated with an increased risk for multiple sclerosis (p=0.012). Similarly, GC haplotype for rs3746544 of SNAP-25 gene and rs1051312 of SNAP-25 gene were associated with an increased risk for multiple sclerosis (p=0.022).Conclusion: Genetic polymorphisms of SNARE complex proteins, which have critical roles in synaptic structure and communication, may play a role in the development of multiple sclerosis.
dc.identifier.doi10.4274/balkanmedj.galenos.2018.2017.1034
dc.identifier.endpage178
dc.identifier.issn2146-3123
dc.identifier.issn2146-3131
dc.identifier.issue3en_US
dc.identifier.pmid30582321
dc.identifier.scopus2-s2.0-85065821486
dc.identifier.scopusqualityQ3
dc.identifier.startpage174
dc.identifier.urihttps://doi.org/10.4274/balkanmedj.galenos.2018.2017.1034
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TXpFNE9URTVPUT09
dc.identifier.urihttps://hdl.handle.net/20.500.11776/8898
dc.identifier.volume36
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÜnal, Aysun
dc.language.isoen
dc.relation.ispartofBalkan Medical Journal
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectKlinik Nöroloji
dc.subjectSağlık Bilimleri ve Hizmetleri
dc.subjectTıbbi İnformatik
dc.subjectGenel ve Dahili Tıp
dc.subjectTıbbi Araştırmalar Deneysel
dc.subjectTemel Sağlık Hizmetleri
dc.subjectCerrahi
dc.titleNovel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis
dc.typeArticle

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
8898.pdf
Boyut:
235.71 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

TR-Dizin İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
Tıp Fakültesi Koleksiyonu