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http://purl.uniprot.org/citations/20423733http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Background

Mutations in the gene encoding desmin (DES), an intermediate filament protein, underlie a heterogeneous phenotype, which is referred to as desmin-related myopathy (DRM). Right ventricular involvement including an arrhythmogenic right ventricular cardiomyopathy (ARVC)(-like) phenotype has occasionally been described in DES mutation-carrying patients.

Objective

To determine the effects of a DES missense mutation on the structure of different intercalated disk proteins, to evaluate right ventricular involvement in DES mutation carriers, and to establish the role of DES mutations in ARVC(-like) phenotypes.

Methods

We evaluated the clinical phenotype in two families carrying two different DES mutations. One family was diagnosed with DRM, with an ARVC(-like) phenotype in one patient, while the other family presented with a severe biventricular cardiomyopathy. Additional immunohistochemistry of desmosomal proteins was performed in myocardial tissue from two patients of the last family. The DES gene was screened for mutations in 50 ARVC(-like) patients.

Results

Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients. In addition to desmin aggregates, immunohistochemistry demonstrated a decreased amount of desmoplakin and plakophilin-2 at the intercalated disk in p.R454W mutation carriers.

Conclusions

We confirmed that either an ARVC-like phenotype or a severe cardiomyopathy with right ventricular involvement are possible, yet infrequent, cardiac phenotypes in DRM. Moreover, we demonstrated that the DES mutation p.R454W affects the localization of desmoplakin and plakophilin-2 at the intercalated disk, suggesting a link between desmosomal cardiomyopathies (mainly affecting the right ventricle) and cardiomyopathies caused by DES mutations."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.org/dc/terms/identifier"doi:10.1016/j.hrthm.2010.04.023"xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"Asimaki A."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"Jongbloed J.D."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"Saffitz J.E."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"van Tintelen J.P."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"de Jonge N."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"Wilde A.A."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"van den Berg M.P."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"van der Wal A."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"Maass A."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"van Langen I.M."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/author"Otten E."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/name"Heart Rhythm"xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/pages"1058-1064"xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/title"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks."xsd:string
http://purl.uniprot.org/citations/20423733http://purl.uniprot.org/core/volume"7"xsd:string
http://purl.uniprot.org/citations/20423733http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/20423733
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