Buccal Cell Diagnosis of Arrhythmogenic Cardiomyopathy (ACM)

摘要

Described herein are, inter alia, methods for diagnosing and treating arrhythmogenic cardiomyopathy (ACM) by detecting cardiac intercalated disk proteins, e.g., desmosomal proteins, mechanical and gap junction proteins, in buccal cells. Exemplary desmosomal and gap junction proteins that can be evaluated in the methods described herein include plakoglobin, plakophilin 1, desmoplakin, and Cx43. The methods can also include selecting and/or administering a treatment for ACM to the subject.

主权项

1. A method comprising:
obtaining a sample comprising buccal cells from the subject; and detecting one or both of the level or localization of one or more desmosomal or gap junction proteins selected from the group consisting of plakoglobin, plakophilin 1, desmoplakin, and Cx43 in the subject sample.