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Updated: Jan 23, 2026
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Genome-wide Gene Deletions in Streptococcus sanguinis by High Throughput PCR
Published on: November 23, 2012
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Megaesophagus Is a Major Pathological Condition in Rats With a Large Deletion in the Rbm20 Gene
Denise J Schwahn1, Jonathan M Pleitner2, Marion L Greaser2
1Research Animal Resources Center and Muscle Biology Laboratory, University of Wisconsin, Madison, WI, USA.
Veterinary Pathology
|June 22, 2019
Summary
A mutation in the RBM20 gene causes abnormal TITIN protein size, leading to megaesophagus in rats. This study reveals a novel mechanism for megaesophagus development and potential human disease insights.
Area of Science:
- Genetics
- Molecular Biology
- Pathology
Background:
- A loss-of-function mutation in the RNA binding motif protein 20 (Rbm20) gene causes abnormally large TITIN (TTN) protein.
- Rbm20 mutations are linked to dilated cardiomyopathy in humans.
- Rats with Rbm20 mutations were evaluated following an outbreak of Pseudomonas aeruginosa.
Purpose of the Study:
- To investigate the cause of megaesophagus in Rbm20-deficient rats.
- To characterize the noncardiac phenotypes associated with Rbm20 deficiency.
- To determine the role of TTN size in esophageal muscle in megaesophagus pathogenesis.
Main Methods:
- Phenotyping of Rbm20-deficient rats.
- Determination of esophageal TTN size.
- Histopathological examination of affected tissues.
Main Results:
- Rbm20-deficient rats frequently developed megaesophagus (41%) by 26 weeks of age.
- Associated conditions included rhinitis, aspiration pneumonia, otitis, and hydronephrosis.
- Increased TTN size was observed in the skeletal muscle of the esophagus.
Conclusions:
- Rbm20 deficiency causes megaesophagus in rats, potentially via altered TTN stretch signaling in esophageal muscle.
- This study identifies a novel mechanism for megaesophagus development.
- This is the first report of megaesophagus and noncardiac pathologies linked to Rbm20 mutation.
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