Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis
Yıl: 2020 Cilt: 26 Sayı: 2 Sayfa Aralığı: 122 - 125 Metin Dili: İngilizce DOI: 10.4274/tnd.2020.56492 İndeks Tarihi: 21-12-2020
Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis
Öz: Objective: Although Aquaporin-4 (Aqp-4) gene polymorphisms have been extensively studied in neuromyelitis optica spectrum disorder (NMOSD), there islittle evidence on the involvement of Aqp-4 in the pathogenesis of relapsing optic neuritis (RON).Materials and Methods: In our study, we recruited patients who were followed by Istanbul University, Istanbul Faculty of Medicine, Department of Neurology,Multiple Sclerosis and Myelin Disorders Unit between 1979 and 2015. Blood samples of the patients were genotyped for potential variants in the exons and thenearby regions of Aqp-4 gene.Results: The Aqp-4 gene was sequenced in 15 patients with RON who were seronegative, 33 patients with NMOSD, and 30 healthy controls. None of thepatients showed previously described single nucleotide polymorphisms (SNPs). Three new SNPs were identified in non-exonic regions of the gene. One intronicSNP located in close proximity to the fifth exon had a higher prevalence in patients with RON than patients with NMOSD and healthy controls.Conclusion: Aqp-4 SNPs show a considerable heterogeneous geographic distribution and might be involved in RON pathogenesis.
Anahtar Kelime: Nöromiyelitis Optika ve Relapslı Enflamatuvar Optik Nöropati Hastalığı ve Aquaporin-4 Gen Polimorfizmi
Öz: Amaç: Aquaporin-4 (Aqp-4) gen polimorfizmi nöromiyelitis optika spektrum bozukluğu (NMOSD) üzerinde oldukça fazla çalışılmış ancak relapslı optik nöropati patogenezi üzerindeki rolü henüz tam olarak bilinmemektedir. Gereç ve Yöntem: Hastalar, İstanbul Üniversitesi İstanbul Tıp Fakültesi, Nöroloji Anabilim Dalı Multipl Skleroz ve Miyelin Hastalıkları Birimi tarafından 1979 ve 2015 yılları arasında takip edilen hastalar arasından seçilmiştir. Hastalardan alınan kan örnekleri ile Aqp-4 geninin ekzonları ve ekzonlara komşu bölgeleri dizilenmiş ve olası farklılıklar açısından taranmıştır. Bulgular: Aqp-4 geni 15 relapslı enflamatuvar optik nöropati, 33 NMOSD spektrum bozukluğu ve 30 sağlıklı kontrol üzerinde çalışılmıştır. Hastalar üzerinde tanımlanan tek nükleotid polimorfizmleri (SNPs) gözlenmemiştir. Hasta ve sağlıklı kontrollerde üç adet yeni tanımlanan SNP saptanmıştır. Beş intronik bölgede yer alan, bazda meydana gelen transisyonunun tekrarlayan optik nörit (RON) grubunda diğer gruplara kıyasla daha fazla olduğu görülmüştür. Sonuç: Aqp-4 geni oldukça heterojen bir izlenim vermiş olup RON patogenezinde rolü olduğunu düşünülmektedir.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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| APA | Cakar A, Ulusoy C, Bireller S, Kucukali C, Tuzun E, Kürtüncü M (2020). Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. , 122 - 125. 10.4274/tnd.2020.56492 |
| Chicago | Cakar Arman,Ulusoy Canan,Bireller Sinem,Kucukali Cem Ismail,Tuzun Erdem,Kürtüncü Murat Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. (2020): 122 - 125. 10.4274/tnd.2020.56492 |
| MLA | Cakar Arman,Ulusoy Canan,Bireller Sinem,Kucukali Cem Ismail,Tuzun Erdem,Kürtüncü Murat Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. , 2020, ss.122 - 125. 10.4274/tnd.2020.56492 |
| AMA | Cakar A,Ulusoy C,Bireller S,Kucukali C,Tuzun E,Kürtüncü M Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. . 2020; 122 - 125. 10.4274/tnd.2020.56492 |
| Vancouver | Cakar A,Ulusoy C,Bireller S,Kucukali C,Tuzun E,Kürtüncü M Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. . 2020; 122 - 125. 10.4274/tnd.2020.56492 |
| IEEE | Cakar A,Ulusoy C,Bireller S,Kucukali C,Tuzun E,Kürtüncü M "Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis." , ss.122 - 125, 2020. 10.4274/tnd.2020.56492 |
| ISNAD | Cakar, Arman vd. "Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis". (2020), 122-125. https://doi.org/10.4274/tnd.2020.56492 |
| APA | Cakar A, Ulusoy C, Bireller S, Kucukali C, Tuzun E, Kürtüncü M (2020). Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. Türk Nöroloji Dergisi, 26(2), 122 - 125. 10.4274/tnd.2020.56492 |
| Chicago | Cakar Arman,Ulusoy Canan,Bireller Sinem,Kucukali Cem Ismail,Tuzun Erdem,Kürtüncü Murat Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. Türk Nöroloji Dergisi 26, no.2 (2020): 122 - 125. 10.4274/tnd.2020.56492 |
| MLA | Cakar Arman,Ulusoy Canan,Bireller Sinem,Kucukali Cem Ismail,Tuzun Erdem,Kürtüncü Murat Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. Türk Nöroloji Dergisi, vol.26, no.2, 2020, ss.122 - 125. 10.4274/tnd.2020.56492 |
| AMA | Cakar A,Ulusoy C,Bireller S,Kucukali C,Tuzun E,Kürtüncü M Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. Türk Nöroloji Dergisi. 2020; 26(2): 122 - 125. 10.4274/tnd.2020.56492 |
| Vancouver | Cakar A,Ulusoy C,Bireller S,Kucukali C,Tuzun E,Kürtüncü M Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis. Türk Nöroloji Dergisi. 2020; 26(2): 122 - 125. 10.4274/tnd.2020.56492 |
| IEEE | Cakar A,Ulusoy C,Bireller S,Kucukali C,Tuzun E,Kürtüncü M "Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis." Türk Nöroloji Dergisi, 26, ss.122 - 125, 2020. 10.4274/tnd.2020.56492 |
| ISNAD | Cakar, Arman vd. "Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis". Türk Nöroloji Dergisi 26/2 (2020), 122-125. https://doi.org/10.4274/tnd.2020.56492 |
