ISSN : 2146-3123
E-ISSN : 2146-3131

Novel SNARE complex polymorphisms associated with Multiple Sclerosis: Signs of Synapthopathy in Multiple Sclerosis
Osman Özgür Yalın1, Tuba Gökdoğan Edgünlü2, Sevim Karakaş Çelik3, Ufuk Emre1, Taşkın Güneş4, Yüksel Erdal1, Aysun Eroğlu Ünal5
1Clinic of Neurology, İstanbul Training and Research Hospital, İstanbul, Turkey
2Department of Medical Biology, Muğla Sıtkı Koçman University School of Medicine, Muğla, Turkey
3Department of Molecular Biology and Genetic, Zonguldak Bülent Ecevit University Faculty of Science, Zonguldak, Turkey
4Clinic of Neurology, İstanbul Bahçelievler State Hospital, İstanbul, Turkey
5Department of Neurology, Tekirdağ Namık Kemal University School of Medicine, İstanbul, Turkey
DOI : 10.4274/balkanmedj.2017.1034

Background: The role of axonal degeneration on disability in patients with multiple sclerosis is well known and the synapthopathy has recently become an important issue.
Aims: To investigate possible roles of selected synaptic and presynaptic membrane protein genetic polymorphisms (VAMP2, SNAP-25, Synaptotagmin, Syntaxin 1A) in patients with multiple sclerosis.
Study Design: Case-control study.
Methods: One hundred and twenty-three patients with multiple sclerosis and 192 healthy controls were included. We analyzed the functional polymorphisms of specific SNARE complex proteins (VAMP2, Synaptotagmin XI, Syntaxin 1A and SNAP-25) by polymerase chain reaction.
Results: The study indicated significant differences for the genotype and allele distribution of 26 bp Ins/Del polymorphisms of VAMP2 between multiple sclerosis and control subjects; Del/Del genotype and Del allele of VAMP2 were more frequent in patients with multiple sclerosis (p=0.011, 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 Synaptogtagmin XI gene C allele (p=0.001) observed more frequently in patients with multiple sclerosis. CC, Syntaxin rs1569061 1A gene for 33-bp promoter region TC haplotypes and Synaptotagmin XI gene has been shown to be associated with increased risk for multiple sclerosis (p = 0.012). Similarly, GC haplotype for rs3746544 of SNAP-25 gene and rs1051312 of SNAP-25 gene were found to be an increased risk for multiple sclerosis (p=0.022).
Conclusion: The 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.

Keywords : multiple sclerosis, genetic, SNARE complex, polymorphism
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