Peer-reviewed veterinary case report
Calstabin2 protein deficiency linked to heart rhythm disease in Boxer
By Oyama, Mark A et al.·Published in Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology·2008·University of Pennsylvania, United States·View original on PubMed →
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Original publication title: Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs is associated with calstabin2 deficiency.
- Species:
- dog
Plain-English summary
A group of 13 Boxer dogs with heart problems called arrhythmogenic right ventricular cardiomyopathy (ARVC) was studied to understand a possible cause related to a protein called calstabin2. The researchers found that these dogs had much lower levels of calstabin2 compared to healthy dogs, which may lead to issues with calcium leaking in the heart and causing irregular heartbeats. While they did not find specific genetic mutations causing this deficiency, the results suggest that calstabin2 deficiency could be linked to heart disease in Boxers.
People also search for: Boxer dog heart problems · arrhythmogenic right ventricular cardiomyopathy in dogs · calstabin2 deficiency in dogs
Abstract
OBJECTIVE: To examine the presence and effect of calstabin2-deficiency in Boxer dogs with arrhythmogenic right ventricular cardiomyopathy (ARVC). ANIMALS: Thirteen Boxer dogs with ARVC. MATERIALS AND METHODS: Tissue samples were collected for histopathology, oligonucleotide microarray, PCR, immunoelectrophoresis, ryanodine channel immunoprecipitation and single-channel recordings, and calstabin2 DNA sequencing. RESULTS: In cardiomyopathic Boxer dogs, myocardial calstabin2 mRNA and protein were significantly decreased as compared to healthy control dogs (calstabin2 protein normalized to tetrameric cardiac ryanodine receptor (RyR2) complex: affected, 0.51+/-0.04; control, 3.81+/-0.22; P<0.0001). Calstabin2 deficiency in diseased dog hearts was associated with a significantly increased open probability of single RyR2 channels indicating intracellular Ca(2+) leak. PCR-based sequencing of the promoter, exonic and splice site regions of the canine calstabin2 gene did not identify any causative mutations. CONCLUSIONS: Calstabin2 deficiency is a potential mechanism of Ca(2+) leak-induced ventricular arrhythmias and heart disease in Boxer dogs with ARVC.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18515204/