Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis
Objective: Although Aquaporin-4 (Aqp-4) gene polymorphisms have been extensively studied in neuromyelitis optica spectrum disorder (NMOSD), there is little evidence on the involvement of Aqp-4 in the pathogenesis of relapsing optic neuritis (RON). Materials and Methods: In our study, we recruited p...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2020-06-01
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| Series: | Türk Nöroloji Dergisi |
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| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-56492&look4= |
| _version_ | 1828030429109682176 |
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| author | Arman Çakar Canan Ulusoy Elif Sinem İplik Cem İsmail Küçükali Erdem Tüzün Murat Kürtüncü |
| author_facet | Arman Çakar Canan Ulusoy Elif Sinem İplik Cem İsmail Küçükali Erdem Tüzün Murat Kürtüncü |
| author_sort | Arman Çakar |
| collection | DOAJ |
| description | Objective: Although Aquaporin-4 (Aqp-4) gene polymorphisms have been extensively studied in neuromyelitis optica spectrum disorder (NMOSD), there is little 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 the nearby 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 the patients showed previously described single nucleotide polymorphisms (SNPs). Three new SNPs were identified in non-exonic regions of the gene. One intronic SNP 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. |
| first_indexed | 2024-04-10T14:28:38Z |
| format | Article |
| id | doaj.art-90f105bf7e6c4fbf8b2744682ec7687f |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-04-10T14:28:38Z |
| publishDate | 2020-06-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-90f105bf7e6c4fbf8b2744682ec7687f2023-02-15T16:08:57ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452020-06-0126212212510.4274/tnd.2020.56492Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic NeuritisArman Çakar0Canan Ulusoy1Elif Sinem İplik2Cem İsmail Küçükali3Erdem Tüzün4Murat Kürtüncü5Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, TurkeyIstanbul University, Aziz Sancar Institute for Experimental Medical Research, Department of Neuroscience, Istanbul, TurkeyIstanbul Yeni Yuzyil University Faculty of Pharmacy, Department of Biochemistry, Istanbul, TurkeyIstanbul University, Aziz Sancar Institute for Experimental Medical Research, Department of Neuroscience, Istanbul, TurkeyIstanbul University, Aziz Sancar Institute for Experimental Medical Research, Department of Neuroscience, Istanbul, TurkeyIstanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, TurkeyObjective: Although Aquaporin-4 (Aqp-4) gene polymorphisms have been extensively studied in neuromyelitis optica spectrum disorder (NMOSD), there is little 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 the nearby 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 the patients showed previously described single nucleotide polymorphisms (SNPs). Three new SNPs were identified in non-exonic regions of the gene. One intronic SNP 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.http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-56492&look4=neuromyelitis opticarecurrent optic neuritispolymorphism aquaporin-4 |
| spellingShingle | Arman Çakar Canan Ulusoy Elif Sinem İplik Cem İsmail Küçükali Erdem Tüzün Murat Kürtüncü Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis Türk Nöroloji Dergisi neuromyelitis optica recurrent optic neuritis polymorphism aquaporin-4 |
| title | Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis |
| title_full | Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis |
| title_fullStr | Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis |
| title_full_unstemmed | Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis |
| title_short | Aquaporin-4 Gene Polymorphisms in Neuromyelitis Optica and Recurrent Optic Neuritis |
| title_sort | aquaporin 4 gene polymorphisms in neuromyelitis optica and recurrent optic neuritis |
| topic | neuromyelitis optica recurrent optic neuritis polymorphism aquaporin-4 |
| url | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-56492&look4= |
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