De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, et al. (2010)
HUMAN MOLECULAR GENETICS 19(23): 4595-4607.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
Download
Es wurde kein Volltext hochgeladen. Nur Publikationsnachweis!
Autor/in
; ; ; ; ; ; ; ; ; ; ;
Alle
Abstract / Bemerkung
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 disease-associated sequence variants. In addition, we screened for desmin mutations and found a novel desmin-mutation 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.
Erscheinungsjahr
2010
Zeitschriftentitel
HUMAN MOLECULAR GENETICS
Band
19
Ausgabe
23
Seite(n)
4595-4607
ISSN
0964-6906
eISSN
1460-2083
Page URI
https://pub.uni-bielefeld.de/record/1929226

Zitieren

Klauke B, Kossmann S, Gaertner A, et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS. 2010;19(23):4595-4607.
Klauke, B., Kossmann, S., Gaertner, A., Brand, K., Stork, I., Brodehl, A., Dieding, M., et al. (2010). De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS, 19(23), 4595-4607. doi:10.1093/hmg/ddq387
Klauke, B., Kossmann, S., Gaertner, A., Brand, K., Stork, I., Brodehl, A., Dieding, M., Walhorn, V., Anselmetti, D., Gerdes, D., et al. (2010). De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS 19, 4595-4607.
Klauke, B., et al., 2010. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS, 19(23), p 4595-4607.
B. Klauke, et al., “De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy”, HUMAN MOLECULAR GENETICS, vol. 19, 2010, pp. 4595-4607.
Klauke, B., Kossmann, S., Gaertner, A., Brand, K., Stork, I., Brodehl, A., Dieding, M., Walhorn, V., Anselmetti, D., Gerdes, D., Bohms, B., Schulz, U., Knyphausen, E.Z., Vorgerd, M., Gummert, J., Milting, H.: De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. HUMAN MOLECULAR GENETICS. 19, 4595-4607 (2010).
Klauke, Baerbel, Kossmann, Sabine, Gaertner, Anna, Brand, Kristina, Stork, Ines, Brodehl, Andreas, Dieding, Mareike, Walhorn, Volker, Anselmetti, Dario, Gerdes, Desiree, Bohms, Birte, Schulz, Uwe, Knyphausen, Edzard Zu, Vorgerd, Matthias, Gummert, Jan, and Milting, Hendrik. “De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy”. HUMAN MOLECULAR GENETICS 19.23 (2010): 4595-4607.

Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®

Quellen

PMID: 20829228
PubMed | Europe PMC

Suchen in

Google Scholar