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
November-December 2010 Volume 1 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
November-December 2010 Volume 1 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

A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients

  • Authors:
    • Avencia Sánchez-Mejías
    • Raquel M. Fernández
    • Guillermo Antiñolo
    • Salud Borrego
  • View Affiliations / Copyright

    Affiliations: Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospitales Universitarios Virgen del Rocío/CSIC/Universidad de Sevilla
  • Pages: 999-1003
    |
    Published online on: August 26, 2010
       https://doi.org/10.3892/etm.2010.140
  • 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

Intestinal neuronal dysplasia type B (INDB) is characterized by the malformation of the parasympathetic submucous plexus of the gut. It is generally accepted that INDB has a genetic basis, and several genes produce an INDB-like phenotype in mice when disrupted, such as EDNRB. However, no mutations associated with this disease have been identified in several series analysed. In the present studu, we sought to determine whether the EDNRB/EDN3 signalling pathway plays a role in the pathogenesis of INDB in humans. Denaturing high performance liquid chromatography (dHPLC) techniques were employed to screen the EDNRB and EDN3 coding regions in 23 INDB patients. In addition, association studies were performed on these genes with single nucleotide polymorphisms strategically selected and genotyped by TaqMan technology. Although several novel variants were detected in both genes, none of these variants appeared to play a functional role in protein function or expression. Our results indicate that additional screening of other candidate genes in larger patient series is required to elucidate the molecular basis of INDB. Additionally, the systematic lack of positive results in the screening of candidate genes for INDB reported in the literature, together with our results, leads us to propose that INDB may alternatively arise as a consequence of gain of function mutations in genes related to enteric nervous system development. Therefore, the use of different molecular approaches, such as screening for genetic duplication or enhancer mutations, is recommended for future studies on the genetic basis of INDB.
View Figures
View References

1. 

Puri P and Shinkai T: Pathogenesis of Hirschsprung’s disease and its variants: recent progress. Semin Pediatr Surg. 13:18–24. 2004.

2. 

Meier-Ruge WA, Bruder E and Kapur RP: Intestinal neuronal dysplasia type B: one giant ganglion is not good enough. Pediatr Dev Pathol. 9:444–452. 2006. View Article : Google Scholar : PubMed/NCBI

3. 

Galvez Y, Skaba R, Vajtrova R, Frantlova M and Herget J: Evidences of secondary neuronal intestinal displasia in a rat model of chronic intestinal obstruction. J Invest Surg. 17:31–39. 2004. View Article : Google Scholar : PubMed/NCBI

4. 

Kobayashi H, Mahomed A and Ouri P: Intestinal neuronal dysplasia in twins. JPGN. 22:398–401. 1996.

5. 

Costa M, Fava M, Seri M, et al: Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation. J Med Genet. 37:E92000. View Article : Google Scholar : PubMed/NCBI

6. 

Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al: Hirschsprung Disease Consortium. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 45:1–14. 2008. View Article : Google Scholar : PubMed/NCBI

7. 

Gath R, Goessling A, Keller K-M, et al: Analysis of the RET, GDNF, EDN3 and EDNRB genes in patient with intestinal neuronal dysplasia and Hirschprung disease. Gut. 48:671–675. 2001. View Article : Google Scholar : PubMed/NCBI

8. 

Fernandez RM, Sanchez-Mejias A, Ruiz-Ferrer M, Lopez-Alonso M, Antiñolo G and Borrego S: Is the RET protooncogene involved in the pathogenesis of intestinal neuronal displasia type B? Mol Med Rep. 2:265–270. 2009.PubMed/NCBI

9. 

Fava M, Borghini S, Cinti R, et al: HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders. Int J Mol Med. 10:101–106. 2002.PubMed/NCBI

10. 

Borghini S, Duca MD, Pini Prato A, et al: Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects. Intern Med J. 39:335–337. 2009. View Article : Google Scholar : PubMed/NCBI

11. 

Von Boyen GB, Krammer HJ, Suss A, Dembowski C, Ehrenreich H and Wedel T: Abnormalities of the enteric nervous system in heterozygous endothelin B receptor deficient (spotting lethal) rats resembling intestinal neuronal dysplasia. Gut. 51:414–419. 2002.PubMed/NCBI

12. 

Sandgren K, Larsson LT and Ekblad E: Widespread changes in neurotransmitter expression and number of enteric neurons and interstitial cells od Cajal in lethal spotted mice. Dig Dis Sci. 47:1049–1064. 2002. View Article : Google Scholar : PubMed/NCBI

13. 

Fernandez RM, Boru G, Peciña A, et al: Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at -1249. J Med Genet. 42:322–327. 2005.

14. 

Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G and Borrego S: New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med. 12:39–43. 2010.PubMed/NCBI

15. 

Auricchio A, Casari G, Staiano A and Ballabio A: Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet. 5:351–354. 1996. View Article : Google Scholar : PubMed/NCBI

16. 

Yamataka A, Hatano M, Kobayashi H, et al: Intestinal neuronal dysplasia-like pathology in Ncx/Hox11L.1 gene-deficient mice. J Pediatr Sur. 36:1293–1296. 2001. View Article : Google Scholar : PubMed/NCBI

17. 

Yanai T, Kobayashi H, Yamataka A, et al: Acetylcholine-related bowel dysmotility in homozygous mutant NCX/HOX11L.1-deficiented in causing intestinal neuronal dysplasia. J Pediatr Sur. 39:927–930. 2004. View Article : Google Scholar : PubMed/NCBI

18. 

Taketomi T, Yoshiga D, Taniguchi K, et al: Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia. Nat Neurosci. 8:855–857. 2005. View Article : Google Scholar : PubMed/NCBI

19. 

Goldstein AM, Brewer KC, Doyle AM, Nandor N and Roberts DJ: BMP signaling is necessary for neural crest cell migration and genglion formation in the enteric nervous system. Mech Dev. 122:821–833. 2005. View Article : Google Scholar : PubMed/NCBI

20. 

Chalazonitis A, D’Autréaux F, Guha U, et al: Bone morphogenetic protein-2 and -4 limit the number of enteric neurons but promote development of a TrkC-expressing neurotrophin-3-dependent subset. J Neurosci. 24:4266–4282. 2004. View Article : Google Scholar : PubMed/NCBI

21. 

Kapur RP: Neuronal dysplasia: a controversial pathological correlate of intestinal pseudo-obstruction. Am J Med Genet. 122A:287–293. 2003. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Sánchez-Mejías A, Fernández RM, Antiñolo G and Borrego S: A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients. Exp Ther Med 1: 999-1003, 2010.
APA
Sánchez-Mejías, A., Fernández, R.M., Antiñolo, G., & Borrego, S. (2010). A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients. Experimental and Therapeutic Medicine, 1, 999-1003. https://doi.org/10.3892/etm.2010.140
MLA
Sánchez-Mejías, A., Fernández, R. M., Antiñolo, G., Borrego, S."A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients". Experimental and Therapeutic Medicine 1.6 (2010): 999-1003.
Chicago
Sánchez-Mejías, A., Fernández, R. M., Antiñolo, G., Borrego, S."A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients". Experimental and Therapeutic Medicine 1, no. 6 (2010): 999-1003. https://doi.org/10.3892/etm.2010.140
Copy and paste a formatted citation
x
Spandidos Publications style
Sánchez-Mejías A, Fernández RM, Antiñolo G and Borrego S: A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients. Exp Ther Med 1: 999-1003, 2010.
APA
Sánchez-Mejías, A., Fernández, R.M., Antiñolo, G., & Borrego, S. (2010). A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients. Experimental and Therapeutic Medicine, 1, 999-1003. https://doi.org/10.3892/etm.2010.140
MLA
Sánchez-Mejías, A., Fernández, R. M., Antiñolo, G., Borrego, S."A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients". Experimental and Therapeutic Medicine 1.6 (2010): 999-1003.
Chicago
Sánchez-Mejías, A., Fernández, R. M., Antiñolo, G., Borrego, S."A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients". Experimental and Therapeutic Medicine 1, no. 6 (2010): 999-1003. https://doi.org/10.3892/etm.2010.140
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