Detecting mutations in the feline cardiac myosin binding protein C gene associated with hypertrophic cardiomyopathy in cats
Inventors
Meurs, Kathryn • Kittleson, Mark
Assignees
University of California Davis • Ohio State University Research Foundation
Publication Number
US-7442509-B2
Publication Date
2008-10-28
Expiration Date
2026-06-01
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Abstract
The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomyopathy in cats, particularly domesticated cats, and more particularly Maine Coon cats. The methods include detecting the presence or absence of a mutation in the feline MYBPC gene, and identifying feline subjects that have or are at risk of developing hypertrophic cardiomyopathy.
Core Innovation
This invention relates to methods for detecting the presence or absence of genetic mutations in the feline cardiac myosin binding protein-C (MYBPC) gene that are associated with hypertrophic cardiomyopathy (HC), specifically in domesticated cats and especially Maine Coon cats. The methods include obtaining a nucleic acid sample from a feline subject and identifying whether a mutation, particularly a cytosine at nucleotide position 66 (codon 31) of exon 3 in the MYBPC gene, is present. The detection of this mutation allows for the identification of cats with or at risk of developing HC.
The problem addressed by the invention is the need for reliable methods to diagnose and prevent feline hypertrophic cardiomyopathy, a common and serious disease in cats that leads to heart failure, sudden death, and systemic thromboembolism. Current diagnostic methods are insufficient for early and definitive detection, especially in asymptomatic animals or those from families with a history of familial hypertrophic cardiomyopathy (FHC).
The invention provides diagnostic tools for screening both symptomatic and asymptomatic feline subjects using nucleic acid analyses, such as Southern analysis, restriction enzyme digestion, gene sequencing, hybridization with allele-specific probes, or oligonucleotide ligation assays. In addition, the patent describes kits comprising polynucleotide probes and primers targeting the relevant MYBPC mutation to aid in the detection process, with the aim of guiding breeding choices and clinical interventions.
Claims Coverage
There is one primary inventive feature based on the independent claim.
Method for diagnosing or predicting feline hypertrophic cardiomyopathy using MYBPC gene mutation detection
The claimed invention provides a method for diagnosing feline hypertrophic cardiomyopathy or predicting the likelihood a Maine Coon cat will develop hypertrophic cardiomyopathy by: 1. Obtaining a nucleic acid sample from the cat. 2. Detecting in the sample a polynucleotide encoding MYBPC, specifically the sequence of SEQ ID NO: 3. 3. Determining whether the MYBPC polynucleotide has a cytosine at position 66 of SEQ ID NO: 3. The presence of a cytosine at position 66 indicates the cat has or is at higher risk for hypertrophic cardiomyopathy compared to a cat with a guanine at that position.
The coverage is focused on a method for identifying a Maine Coon cat's risk or diagnosis of hypertrophic cardiomyopathy by detecting a specific mutation—cytosine at position 66—in the MYBPC gene.
Stated Advantages
Provides a reliable method for diagnosing feline hypertrophic cardiomyopathy or identifying cats at risk before onset of clinical symptoms.
Allows for early interventional care and improved overall prognosis in affected or at-risk feline subjects.
Enables selective screening and removal of cats carrying the mutation from the breeding population, aiding reduction of disease propagation in family lines.
Documented Applications
Screening symptomatic and asymptomatic feline subjects, particularly Maine Coon cats, for hypertrophic cardiomyopathy-associated MYBPC mutations.
Selective screening of cats from families with a history of familial hypertrophic cardiomyopathy to predict risk.
Guiding removal of cats with the MYBPC mutation from breeding populations to reduce propagation of hypertrophic cardiomyopathy.
Providing diagnostic kits for use in detecting mutations in the MYBPC gene associated with feline hypertrophic cardiomyopathy.
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