Arrhythmogenic cardiomyopathy (ACM) is a familial myocardial disease characterized by a high incidence of ventricular arrhythmias and increased risk of sudden death, especially in young individuals and athletes. Mutations in one or more desmosomal genes (PKP2, DSP, JUP, DSG2, DSC2) can be found in ∼60% of patients who fulfill criteria for the clinical diagnosis of ACM. However, identifying affected family members at risk of adverse events remains challenging as cardiac samples are difficult to obtain. To find a surrogate tissue for the heart, our scientists have investigated buccal mucosa cells which can be easily and safely obtained from large numbers of subjects at minimal costs. This invention describes non-invasive approach for diagnosing ACM by detecting certain cardiac proteins in buccal mucosa cells.
• Buccal mucosa cells can be easily and safely obtained at minimal costs.
• The buccal mucosa cells can be used as surrogate for diagnosis of arrhythmogenic cardiomyopathy
• The buccal mucosa cells can be useful in drug screens for effective therapies in arrhythmogenic cardiomyopathy
Stage of Development
• Buccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart.
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