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Megaoesophagus in Rassf1a-null mice.

Louise van der Weyden1, Lisa Happerfield, Mark J Arends

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. lvdw@sanger.ac.uk

International Journal of Experimental Pathology
|April 2, 2009
PubMed
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Researchers identified a genetic cause for megaoesophagus (oesophageal achalasia) in mice. Rassf1a-null mice showed increased susceptibility, revealing a potential genetic link and a new animal model for this neuromuscular disorder.

Area of Science:

  • Genetics and Molecular Biology
  • Gastroenterology
  • Neuromuscular Disorders

Background:

  • Megaoesophagus, or oesophageal achalasia, is a neuromuscular disorder causing oesophageal dilation and food retention.
  • The causes and genetic basis of idiopathic megaoesophagus remain poorly understood.
  • Existing animal models for megaoesophagus have been largely unsuccessful.

Purpose of the Study:

  • To investigate the genetic causes of megaoesophagus.
  • To identify and characterize a suitable animal model for studying megaoesophagus.
  • To explore potential therapeutic targets for megaoesophagus.

Main Methods:

  • Comparison of megaoesophagus incidence in aged Rassf1a-null mice and wild-type littermates.
  • Histological examination of oesophageal tissue, including S100 immunohistochemistry.

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  • Analysis of nerve cell numbers, inflammation, and fibrosis in the myenteric plexus.

    • Main Results:

    • Aged Rassf1a-null mice exhibited significantly higher susceptibility to megaoesophagus (20%) compared to wild-type mice (2%).
    • Histology revealed reduced nerve cells in the myenteric plexus, chronic inflammation, and fibrosis in affected mice.
    • Pathological findings in the mouse model closely mimic human megaoesophagus/achalasia.

    Conclusions:

    • The Rassf1a gene is identified as a potential genetic cause for megaoesophagus/achalasia.
    • Rassf1a-null mice represent a valid and representative animal model for studying this disease.
    • This discovery may facilitate genetic screening in patients and the development of novel therapies.