Author's response to reviews Title: Missense mutations in Desmocollin-2 N-terminus, associated with Arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro Authors:
نویسندگان
چکیده
Giorgia Beffagna ([email protected]) Marzia De Bortoli ([email protected]) Andrea Nava ([email protected]) Michela Salamon ([email protected]) Alessandra Lorenzon ([email protected]) Manuela Zaccolo ([email protected]) Luisa Mancuso ([email protected]) Luca Sigalotti ([email protected]) Barbara Bauce ([email protected]) Gianluca Occhi ([email protected]) Cristina Basso ([email protected]) Gerolamo Lanfranchi ([email protected]) Jeffrey A Towbin ([email protected]) Gaetano Thiene ([email protected]) Gian Antonio Danieli ([email protected]) Alessandra Rampazzo ([email protected])
منابع مشابه
A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions
BACKGROUND Cellular adhesion mediated by cardiac desmosomes is a prerequisite for proper electric propagation mediated by gap junctions in the myocardium. However, the molecular principles underlying this interdependence are not fully understood. OBJECTIVE The purpose of this study was to determine potential causes of right ventricular conduction abnormalities in a patient with borderline dia...
متن کاملMechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations
AIMS Recent immunohistochemical studies observed the loss of plakoglobin (PG) from the intercalated disc (ID) as a hallmark of arrhythmogenic right ventricular cardiomyopathy (ARVC), suggesting a final common pathway for this disease. However, the underlying molecular processes are poorly understood. METHODS AND RESULTS We have identified novel mutations in the desmosomal cadherin desmocollin...
متن کاملHomozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
BACKGROUND Dominant mutations in cellular junction proteins are the major cause of arrhythmogenic cardiomyopathy, whereas recessive mutations in those proteins cause cardiocutaneous syndromes such as Naxos and Carvajal syndrome. The Hutterites are distinct genetic isolates who settled in North America in 1874. Descended from <100 founders, they trace their origins to 16th-century Europe. METH...
متن کاملDesmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts
AIMS Arrhythmogenic right ventricular Dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited cardiomyopathy associated with ventricular arrhythmia, heart failure and sudden death. Genetic studies have demonstrated the central role of desmosomal proteins in this disease, where 50% of patients harbor a mutation in a desmosmal gene. However, clinical diagnosis of the disease remains ...
متن کاملCompound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
OBJECTIVES The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND Arrhythmogenic right ventricular cardiomyopathy, characterized by right ventricular fibrofatty replacement and arrhythmias, causes sudden death. Autosomal dominant inheritance, reduced penetrance, and 7 desmosome-encoding causative genes are known. The basis o...
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تاریخ انتشار 2007