SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.

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  • Additional Information
    • Affiliation:
      School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan
      Department of Urology, Cathay General Hospital, Taipei, Taiwan
      School of Medicine, Taipei Medical University, Taipei, Taiwan
      Department of Urology, Taipei Medical University Hospital, Taipei, Taiwan
      Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University, New Taipei City, Taiwan
      Division of Urology, Department of Surgery, Cardinal Tien Hospital, New Taipei City, Taiwan
      Department of Urology, Fu Jen Catholic University Hospital, New Taipei City, Taiwan
    • Subject Terms:
      Vas Deferens -- Abnormalities -- Taiwan ; Genital Diseases, Male -- Familial and Genetic -- Taiwan ; Membrane Glycoproteins ; Polymorphism, Genetic
    • Subject Terms:
      Animal Studies; Mice; Human; Case Control Studies; Prospective Studies; Male; Fertility; Genotype; Epithelium; Atrophy; Gene Expression; Membrane Transport Proteins; Taiwan; Incidence
    • Abstract:
      Background. The pathophysiology of Taiwanese congenital bilateral absence of the vas deferens (CBAVD) is different from that in Caucasians. In particular, major cystic fibrosis transmembrane conductance regulator (CFTR) mutations and cystic fibrosis are absent in the former. Instead, deficiency in solute carrier family 9 sodium/hydrogen exchanger isoform 3 (SLC9A3) may play a role by generating obstructive azoospermia and degraded epithelial structure in the reproductive tract. Objectives. The objective of the study was to test whether SLC9A3 variants cause Taiwanese CBAVD. Materials and Methods. Six-month-old Slc9a3−/− male mice were used to evaluate the effect of long-term SLC9A3 loss on the reproductive system. A case-control cohort of 29 men with CBAVD and 32 fertile men were genotyped for SLC9A3 variants. Results. SLC9A3 was expressed and localized in the apical border of the epithelium of human vas deferens and glandular epithelium of the seminal vesicle. SLC9A3 deficiency specifically induces atrophy of vas deferens and unfolding of seminal vesicle mucosa in mice. Loss of SLC9A3 increased the incidence of CBAVD in humans from 3.1% to 37.9% (p < 0.001). Up to 75.9% of CBAVD patients carry at least one variant in either SLC9A3 or CFTR. Discussion. Our findings build upon previous data associated with CBAVD pathogenesis. Here, we now report for the first time an association between CBAVD and loss of SLC9A3 and propose that specific defects in the reproductive duct due to SLC9A3 variants drive CBAVD development. Conclusion. The data implicate loss of SLC9A3 as a basis of Taiwanese CBAVD and highlight SLC9A3 function in reproduction.
    • Journal Subset:
      Biomedical; Peer Reviewed; USA
    • ISSN:
      2314-6133
    • MEDLINE Info:
      NLM UID: 101600173
    • Publication Date:
      20190313
    • Publication Date:
      20190313
    • Accession Number:
      http://dx.doi.org/10.1155/2019/3562719
    • Accession Number:
      135196672
  • Citations
    • ABNT:
      WU, Y.-N. et al. SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens. BioMed Research International, [s. l.], p. 1–10, 2019. DOI 10.1155/2019/3562719. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=ccm&AN=135196672&custid=s6224580. Acesso em: 3 jun. 2020.
    • AMA:
      Wu Y-N, Chen K-C, Wu C-C, Lin Y-H, Chiang H-S. SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens. BioMed Research International. March 2019:1-10. doi:10.1155/2019/3562719.
    • APA:
      Wu, Y.-N., Chen, K.-C., Wu, C.-C., Lin, Y.-H., & Chiang, H.-S. (2019). SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens. BioMed Research International, 1–10. https://doi.org/10.1155/2019/3562719
    • Chicago/Turabian: Author-Date:
      Wu, Yi-No, Kuo-Chiang Chen, Chien-Chih Wu, Ying-Hung Lin, and Han-Sun Chiang. 2019. “SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.” BioMed Research International, March, 1–10. doi:10.1155/2019/3562719.
    • Harvard:
      Wu, Y.-N. et al. (2019) ‘SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens’, BioMed Research International, pp. 1–10. doi: 10.1155/2019/3562719.
    • Harvard: Australian:
      Wu, Y-N, Chen, K-C, Wu, C-C, Lin, Y-H & Chiang, H-S 2019, ‘SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens’, BioMed Research International, pp. 1–10, viewed 3 June 2020, .
    • MLA:
      Wu, Yi-No, et al. “SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.” BioMed Research International, Mar. 2019, pp. 1–10. EBSCOhost, doi:10.1155/2019/3562719.
    • Chicago/Turabian: Humanities:
      Wu, Yi-No, Kuo-Chiang Chen, Chien-Chih Wu, Ying-Hung Lin, and Han-Sun Chiang. “SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.” BioMed Research International, March 10, 2019, 1–10. doi:10.1155/2019/3562719.
    • Vancouver/ICMJE:
      Wu Y-N, Chen K-C, Wu C-C, Lin Y-H, Chiang H-S. SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens. BioMed Research International [Internet]. 2019 Mar 10 [cited 2020 Jun 3];1–10. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=ccm&AN=135196672&custid=s6224580