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

Yalın, Osman Özgür ; Gökdoğan Edgünlü, Tuba ; Karakaş Çelik, Sevim ; Emre, Ufuk ; Güneş, Taşkın ; Erdal, Yüksel ; Eroğlu Ünal, Aysun Koçak,Zafer

Balkan medical journal, 2019-05, Vol.36 (3), p.174-178 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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Título:
Novel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis
Autor: Yalın, Osman Özgür ; Gökdoğan Edgünlü, Tuba ; Karakaş Çelik, Sevim ; Emre, Ufuk ; Güneş, Taşkın ; Erdal, Yüksel ; Eroğlu Ünal, Aysun
Koçak,Zafer
Assuntos: Adolescent ; Adult ; Alzheimers disease ; Analysis ; Antigens ; Autism ; Case-Control Studies ; Containers ; Deoxyribonucleic acid ; Development and progression ; DNA ; EDTA ; Female ; Genes ; Genetic aspects ; Genetic polymorphisms ; Genotypes ; Hospitals ; Humans ; Male ; Middle Aged ; Multiple sclerosis ; Multiple Sclerosis - blood ; Multiple Sclerosis - genetics ; Neurology ; Original ; Polymerase chain reaction ; Polymerase Chain Reaction - methods ; polymorphism ; Polymorphism, Genetic - genetics ; Proteins ; Schizophrenia ; SNARE proteins ; SNARE Proteins - analysis ; SNARE Proteins - blood ; Statistical analysis ; Studies ; Synaptosomal-Associated Protein 25 - analysis ; Synaptosomal-Associated Protein 25 - blood ; Synaptotagmins - analysis ; Synaptotagmins - blood ; Tıp ; Turkey ; Vesicle-Associated Membrane Protein 2 - analysis ; Vesicle-Associated Membrane Protein 2 - blood
É parte de: Balkan medical journal, 2019-05, Vol.36 (3), p.174-178
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: 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. 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. Case-control study. 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. 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). 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.
Editor: Turkey: Galenos Yayinevi Tic. Ltd
Idioma: Inglês;Turco

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

Yalın, Osman Özgür ; Gökdoğan Edgünlü, Tuba ; Karakaş Çelik, Sevim ; Emre, Ufuk ; Güneş, Taşkın ; Erdal, Yüksel ; Eroğlu Ünal, Aysun Koçak,Zafer

Turkey: Galenos Yayinevi Tic. Ltd

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