Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
December-2017 Volume 14 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
December-2017 Volume 14 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica

  • Authors:
    • Qing-Song Wang
    • Hong-Qiong Xiao
    • Hua-Xian Chen
    • Yan-Ping Liu
    • Xu-Dong Ding
  • View Affiliations / Copyright

    Affiliations: Department of Rehabilitation Medicine, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, Hubei 441000, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 6017-6021
    |
    Published online on: October 6, 2017
       https://doi.org/10.3892/etm.2017.5267
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The single nucleotide polymorphism (SNP) site within the aquaporin (AQP)-4 gene exons and its possible role in the pathogenesis of neuromyelitis optica (NMO) were studied. From March 2010 to June 2012, 72 patients with NMO from Xiangyang No. 1 People's Hospital, Hubei University of Medicine were enrolled in the NMO group. At the same time, 80 patients with multiple sclerosis (MS) were enrolled in our study as the MS group. Blood samples were collected and DNA was extracted for analysis of SNP sites of AQP4 gene. Specific site-directed mutagenesis method was used for site-directed mutagenesis on plasmid enhanced green fluorescence protein carrying AQP4 gene. Mutant plasmids were constructed and used for transfecting cell lines. The differences of anti-AQP4 antibody level in the cell line were analyzed. The possible correlation between AQP4 gene SNP sites and the pathogenesis of NMO were analyzed. In the NMO group, 6 SNP sites in AQP4 gene were located in exons 2 and 5. These included R108T, I110N, E280R, D281R, P295R and E317M. There was no SNP site in exons 1, 3 and 4. In the MS group, no SNP site was found in AQP4 gene. R108T, I110N, R108T/I110N, E280R/D281R, P295R and E317M cell lines were constructed in the NMO group, and anti-AQP4 antibody in the serum was compared between R108T/I110N, E280R/D281R and E317M cell lines and the original HEK293T cell line. The difference was statistically significant (P<0.05). The positive rate of anti-AQP4 antibody titer in serum was compared between R108T, I110N, R108T/I110N, E280R/D281R, P295R and E317M cell lines in the NMO group and the original cell line in the MS group. In conclusion, SNP sites in AQP4 gene in patients with NMO may lead to some conformational changes in AQP4 protein. This affects the antigenicity of AQP4 protein. The different intensity of antigen-antibody reaction may cause the differences of titer observed between the different mutant cell lines.
View Figures
View References

1 

Devic E: Subacute myelitis complicated by optic neuritis. Bull Med. 8:1033–1034. 1894.(In French).

2 

Lennon VA, Wingerchuk DM, Kryzer TJ, Pittock SJ, Lucchinetti CF, Fujihara K, Nakashima I and Weinshenker BG: A serum autoantibody marker of neuromyelitis optica: Distinction from multiple sclerosis. Lancet. 364:2106–2112. 2004. View Article : Google Scholar : PubMed/NCBI

3 

Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS and Hinson SR: IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med. 202:473–477. 2005. View Article : Google Scholar : PubMed/NCBI

4 

Kira J: Neuromyelitis optica and opticospinal multiple sclerosis: Mechanisms and pathogenesis. Pathophysiology. 18:69–79. 2011. View Article : Google Scholar : PubMed/NCBI

5 

Lim BC, Hwang H, Kim KJ, Hwang YS, Cheon JE, Kim IO, Kim HJ and Chae JH: Relapsing demyelinating CNS disease in a Korean pediatric population: Multiple sclerosis versus neuromyelitis optica. Mult Scler. 17:67–73. 2011. View Article : Google Scholar : PubMed/NCBI

6 

Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF and Weinshenker BG: Revised diagnostic criteria for neuromyelitis optica. Neurology. 66:1485–1489. 2006. View Article : Google Scholar : PubMed/NCBI

7 

Polman CH, Reingold SC, Edan G, Filippi M, Hartung HP, Kappos L, Lublin FD, Metz LM, McFarland HF, O'Connor PW, et al: Diagnostic criteria for multiple sclerosis: 2005 revisions to the ‘McDonald Criteria’. Ann Neurol. 58:840–846. 2005. View Article : Google Scholar : PubMed/NCBI

8 

Takahashi T, Fujihara K, Nakashima I, Misu T, Miyazawa I, Nakamura M, Watanabe S, Ishii N and Itoyama Y: Establishment of a new sensitive assay for anti-human aquaporin-4 antibody in neuromyelitis optica. Tohoku J Exp Med. 210:307–313. 2006. View Article : Google Scholar : PubMed/NCBI

9 

Hiroaki Y, Tani K, Kamegawa A, Gyobu N, Nishikawa K, Suzuki H, Walz T, Sasaki S, Mitsuoka K, Kimura K, et al: Implications of the aquaporin-4 structure on array formation and cell adhesion. J Mol Biol. 355:628–639. 2006. View Article : Google Scholar : PubMed/NCBI

10 

Amiry-Moghaddam M, Xue R, Haug FM, Neely JD, Bhardwaj A, Agre P, Adams ME, Froehner SC, Mori S and Ottersen OP: Alpha-syntrophin deletion removes the perivascular but not endothelial pool of aquaporin-4 at the blood-brain barrier and delays the development of brain edema in an experimental model of acute hyponatremia. FASEB J. 18:542–544. 2004.PubMed/NCBI

11 

Cavazzin C, Ferrari D, Facchetti F, Russignan A, Vescovi AL, La Porta CA and Gritti A: Unique expression and localization of aquaporin-4 and aquaporin-9 in murine and human neural stem cells and in their glial progeny. Glia. 53:167–181. 2006. View Article : Google Scholar : PubMed/NCBI

12 

Tomás-Camardiel M, Venero JL, Herrera AJ, De Pablos RM, Pintor-Toro JA, Machado A and Cano J: Blood-brain barrier disruption highly induces aquaporin-4 mRNA and protein in perivascular and parenchymal astrocytes: Protective effect by estradiol treatment in ovariectomized animals. J Neurosci Res. 80:235–246. 2005. View Article : Google Scholar : PubMed/NCBI

13 

Niu CH and Zhang XH: The research progress of pathogenesis and treatment strategy of neuromyelitis optica. Chin J Neuroimmunol Neurol. 20:208–211. 2013.(In Chinese).

14 

Fujihara K: Neuromyelitis optica and astrocytic damage in its pathogenesis. J Neurol Sci. 306:183–187. 2011. View Article : Google Scholar : PubMed/NCBI

15 

Pittock SJ, Weinshenker BG, Lucchinetti CF, Wingerchuk DM, Corboy JR and Lennon VA: Neuromyelitis optica brain lesions localized at sites of high aquaporin 4 expression. Arch Neurol. 63:964–968. 2006. View Article : Google Scholar : PubMed/NCBI

16 

Pittock SJ, Lennon VA, Krecke K, Wingerchuk DM, Lucchinetti CF and Weinshenker BG: Brain abnormalities in neuromyelitis optica. Arch Neurol. 63:390–396. 2006. View Article : Google Scholar : PubMed/NCBI

17 

Wingerchuk DM: Neuromyelitis optica: New findings on pathogenesis. Int Rev Neurobiol. 79:665–688. 2007. View Article : Google Scholar : PubMed/NCBI

18 

Dean G, Yeo TW, Goris A, Taylor CJ, Goodman RS, Elian M, Galea-Debono A, Aquilina A, Felice A, Vella M, et al: HLA-DRB1 and multiple sclerosis in Malta. Neurology. 70:101–105. 2008. View Article : Google Scholar : PubMed/NCBI

19 

McElroy JP, Cree BA, Caillier SJ, Gregersen PK, Herbert J, Khan OA, Freudenberg J, Lee A, Bridges SL Jr, Hauser SL, et al: Refining the association of MHC with multiple sclerosis in African Americans. Hum Mol Genet. 19:3080–3088. 2010. View Article : Google Scholar : PubMed/NCBI

20 

Sorani MD, Zador Z, Hurowitz E, Yan D, Giacomini KM and Manley GT: Novel variants in human Aquaporin-4 reduce cellular water permeability. Hum Mol Genet. 17:2379–2389. 2008. View Article : Google Scholar : PubMed/NCBI

21 

Kleffner I, Bungeroth M, Schiffbauer H, Schäbitz WR, Ringelstein EB and Kuhlenbäumer G: The role of aquaporin-4 polymorphisms in the development of brain edema after middle cerebral artery occlusion. Stroke. 39:1333–1335. 2008. View Article : Google Scholar : PubMed/NCBI

22 

Mai WH, Hu XQ, Long YM, Lu ZQ, Peng FH and Wang YG: Associations of aquaporin-4 promoter polymorphism to multiple sclerosis and neuromyelitis optica in southern Chinese population. Chin J Neurol. 45:312–317. 2012.

23 

Matiello M, Schaefer-Klein JL, Hebrink DD, Kingsbury DJ, Atkinson EJ and Weinshenker BG NMO Genetics Collaborators: Genetic analysis of aquaporin-4 in neuromyelitis optica. Neurology. 77:1149–1155. 2011. View Article : Google Scholar : PubMed/NCBI

24 

Stevanin G, Ruberg M and Brice A: Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep. 8:198–210. 2008. View Article : Google Scholar : PubMed/NCBI

25 

Waters P, Jarius S, Littleton E, Leite MI, Jacob S, Gray B, Geraldes R, Vale T, Jacob A, Palace J, et al: Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis. Arch Neurol. 65:913–919. 2008. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Wang Q, Xiao H, Chen H, Liu Y and Ding X: The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica. Exp Ther Med 14: 6017-6021, 2017.
APA
Wang, Q., Xiao, H., Chen, H., Liu, Y., & Ding, X. (2017). The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica. Experimental and Therapeutic Medicine, 14, 6017-6021. https://doi.org/10.3892/etm.2017.5267
MLA
Wang, Q., Xiao, H., Chen, H., Liu, Y., Ding, X."The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica". Experimental and Therapeutic Medicine 14.6 (2017): 6017-6021.
Chicago
Wang, Q., Xiao, H., Chen, H., Liu, Y., Ding, X."The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica". Experimental and Therapeutic Medicine 14, no. 6 (2017): 6017-6021. https://doi.org/10.3892/etm.2017.5267
Copy and paste a formatted citation
x
Spandidos Publications style
Wang Q, Xiao H, Chen H, Liu Y and Ding X: The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica. Exp Ther Med 14: 6017-6021, 2017.
APA
Wang, Q., Xiao, H., Chen, H., Liu, Y., & Ding, X. (2017). The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica. Experimental and Therapeutic Medicine, 14, 6017-6021. https://doi.org/10.3892/etm.2017.5267
MLA
Wang, Q., Xiao, H., Chen, H., Liu, Y., Ding, X."The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica". Experimental and Therapeutic Medicine 14.6 (2017): 6017-6021.
Chicago
Wang, Q., Xiao, H., Chen, H., Liu, Y., Ding, X."The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica". Experimental and Therapeutic Medicine 14, no. 6 (2017): 6017-6021. https://doi.org/10.3892/etm.2017.5267
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team