Desmosomes in heart and skin: friends or foes?

This letter, published in the Journal of Translational Medicine, discusses the relationship between desmosomes and a heart-muscle disease called arrhythmogenic cardiomyopathy (ACM). The study focuses on the presence of dermatological changes in ACM patients with mutations in desmosomal genes. The researchers found that while desmosomal isoforms are expressed in the skin, genetic variations in desmosomal genes do not consistently affect the appearance of the skin. However, the study is limited by a small sample size and further research is needed to explore the impact of desmosomal genetic variations on the skin appearance in ACM patients. The document also provides a table of genetic variations associated with specific conditions, including information such as the gene, type of variation, reference SNP ID, classification, and supporting criteria. The authors acknowledge their funding sources and declare no competing interests. The data related to the study can be requested from the corresponding authors. Informed consent was obtained from all participants, and the study was approved by the internal ethics committee. [Extracted from the article]