Cell Adhesion Pathology

摘要: Significant progress has been made in identifying single gene mutations responsible for causing human cardiomyopathies. Although many of these monogenic cardiomyopathies are rare, insights into pathogenesis by identification the can provide clues about mechanisms more common forms heart disease.We have studied a group caused genes encoding proteins that function as linkers cell-cell adhesion junctions. These diseases, which we termed junction cardiomyopathies, intracellular link molecules at adherens junctions and desmosomes to myocyte cytoskeleton. Among implicated diseases those desmoplakin, plakoglobin, plakophilin-2. both dominant recessive patterns inheritance associated with clinical phenotypes arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) or dilat cardiomyopathy (DCM), without hair skin abnormalities [1].Common features high incidence syncope, arrhythmias, sudden cardiac death. This observation suggests alterations intercellular defects mechanical may create anatomic substrates particularly conducive development lethal arrhythmias. Our work this area focused on hypothesis defective linkage causes remodeling gap junctions, which, turn, give rise conduction contribute death patients.