Erich Und Hanna Klessmann Institute For Kardiovaskulaere Forschung Und Entwicklung

Bad Oeynhausen, Germany

Erich Und Hanna Klessmann Institute For Kardiovaskulaere Forschung Und Entwicklung

Bad Oeynhausen, Germany

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Klauke B.,Erich Und Hanna Klessmann Institute For Kardiovaskulaere Forschung Und Entwicklung | Kossmann S.,Erich Und Hanna Klessmann Institute For Kardiovaskulaere Forschung Und Entwicklung | Gaertner A.,Erich Und Hanna Klessmann Institute For Kardiovaskulaere Forschung Und Entwicklung | Brand K.,Erich Und Hanna Klessmann Institute For Kardiovaskulaere Forschung Und Entwicklung | And 12 more authors.
Human Molecular Genetics | Year: 2010

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, frequently accompanied by sudden cardiac death and terminal heart failure. Genotyping of ARVC patients might be used for palliative treatment of the affected family. We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP, DSG2, DSC2, DSP and PKP2 known to be associated with ARVC. In 43% of the cohort, we found diseaseassociated sequence variants. In addition, we screened for desmin mutations and found a novel desminmutation p.N116S in a patient with ARVC and terminal heart failure, which is located in segment 1A of the desmin rod domain. The mutation leads to the aggresome formation in cardiac and skeletal muscle without signs of an overt clinical myopathy. Cardiac aggresomes appear to be prominent, especially in the right ventricle of the heart. Viscosimetry and atomic force microscopy of the desmin wild-type and N116S mutant isolated from recombinant Escherichia coli revealed severe impairment of the filament formation, which was supported by transfections in SW13 cells. Thus, the gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients. © The Author 2010. Published by Oxford University Press. All rights reserved.

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