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Human Molecular Genetics Advance Access published online on October 19, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi386
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© The Author 2005. Published by Oxford University Press. All rights reserved
Received August 13, 2005
Revised October 11, 2005
Accepted October 11, 2005

Article

A cardiac myosin binding protein C mutation in the maine coon cat with familial hypertrophic cardiomyopathy

Kathryn M. Meurs 1*, Ximena Sanchez 2, Ryan M. David 2, Neil E. Bowles 2, Jeffrey A. Towbin 2, Peter J. Reiser 3, Judith A. Kittleson 4, Marcia J. Munro 4, Keith Dryburgh 5, Kristin A. MacDonald 4, and Mark D. Kittleson 4

1 Department of Veterinary Clinical Sciences, College of Veterinary Medicine, The Ohio State University, 601 Vernon Tharp Street, Columbus, Ohio, 43210,USA; Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Washington State University, Pullman, WA, 99164-6610, USA
2 Department of Pediatric Cardiology, 6621 Fannin, Baylor College of Medicine, Houston, Texas, 77030, USA
3 Department of Oral Biology, College of Dentistry, The Ohio State University, 4195 12th Street, Columbus, Ohio, 43210, USA
4 Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, One Shields Avenue, Davis, California, 95616, USA
5 Department of Veterinary Clinical Sciences, College of Veterinary Medicine, The Ohio State University, 601 Vernon Tharp Street, Columbus, Ohio, 43210,USA

* To whom correspondence should be addressed.
Kathryn M. Meurs, E-mail: Meurs{at}vetmed.wsu.edu


  Abstract

Hypertrophic cardiomyopathy (HCM) is one of the most common causes of sudden cardiac death in young adults and is a familial disease in at least 60% of cases. Causative mutations have been identified in several sarcomeric genes, including the myosin binding protein C (MYBPC3) gene. Although numerous causative mutations have been identified, the pathogenetic process is still poorly understood. A large animal model of familial HCM in the cat has been identified and may be used for additional study. As the first spontaneous large animal model of this familial disease, feline familial HCM provides a valuable model for investigators to evaluate pathophysiologic processes and therapeutic (pharmacologic or genetic) manipulations.

The MYBPC3 gene was chosen as a candidate gene in this model after identifying a reduction in the protein in myocardium from affected cats in comparison to control cats (p<.001). DNA sequencing was performed and sequence alterations were evaluated for evidence that they changed the amino acid produced, that the amino acid was conserved and that the protein structure was altered. We identified a single base pair change (G to C) in the feline MYBPC3 gene in affected cats that computationally alters the protein conformation of this gene and results in sarcomeric disorganization.

We have identified a causative mutation in the feline MYBPC3 gene that results in the development of familial hypertrophic cardiomyopathy. This is the first report of a spontaneous mutation causing HCM in a non human species. It should provide a valuable model for evaluating pathophysiologic processes and therapeutic manipulations.


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