Mutations in desmosomal and non-desmosomal proteins of the intercalated disk are correlated with arrhythmogenic ventricular cardiomyopathies, Naxos disease, and Carvajal disease.
Provides a comprehensive reference thesaurus of mutations in intercalated disk proteins associated with arrhythmogenic cardiomyopathies.
In the past decade, an avalanche of findings and reports has correlated arrhythmogenic ventricular cardiomyopathies (ARVC) and Naxos and Carvajal diseases with certain mutations in protein constituents of the special junctions connecting the polar regions (intercalated disks) of mature mammalian cardiomyocytes. These molecules, apparently together with some specific cytoskeletal proteins, are components of (or interact with) composite junctions. Composite junctions contain the amalgamated fusion products of the molecules that, in other cell types and tissues, occur in distinct separate junctions, i.e. desmosomes and adherens junctions. As the pertinent literature is still in an expanding phase and is obviously becoming important for various groups of researchers in basic cell and molecular biology, developmental biology, histology, physiology, cardiology, pathology and genetics, the relevant references so far recognized have been collected and are presented here in the following order: desmocollin-2 (Dsc2, DSC2), desmoglein-2 (Dsg2, DSG2), desmoplakin (DP, DSP), plakoglobin (PG, JUP), plakophilin-2 (Pkp2, PKP2) and some non-desmosomal proteins such as transmembrane protein 43 (TMEM43), ryanodine receptor 2 (RYR2), desmin, lamins A and C, striatin, titin and transforming growth factor-β3 (TGFβ3), followed by a collection of animal models and of reviews, commentaries, collections and comparative studies.
Rickelt et al. (2012) conducted a review in Arrhythmogenic ventricular cardiomyopathies (ARVC), Naxos disease, and Carvajal disease. Mutations in intercalated disk proteins was evaluated. Mutations in desmosomal and non-desmosomal proteins of the intercalated disk are correlated with arrhythmogenic ventricular cardiomyopathies, Naxos disease, and Carvajal disease.