Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy

Aims Although dilated cardiomyopathy is the most frequent form of cardiomyopathy, its aetiology is still poorly understood. In about 20–30% of cases the disease is familial with a large predominance of autosomal dominant transmission. Ten different chromosomal loci have been described for autosomal...

Full description

Saved in:
Bibliographic Details
Published in:European heart journal 2000-11, Vol.21 (22), p.1872-1876
Main Authors: Tesson, F, Sylvius, N, Pilotto, A, Dubosq-Bidot, L, Peuchmaurd, M, Bouchier, C, Benaiche, A, Mangin, L, Charron, P, Gavazzi, A, Tavazzi, L, Arbustini, E, Komajda, M
Format: Article
Language:English
Subjects:
Actins - genetics
Actins - metabolism
Base Sequence - genetics
Biological and medical sciences
cardiac actin gene
Cardiology. Vascular system
Cardiomyopathy, Dilated - genetics
Cardiomyopathy, Dilated - metabolism
Desmin - genetics
desmin gene
Europe
Familial dilated cardiomyopathy
Gene Frequency
Genetic Testing
Heart
Humans
Medical sciences
Mutation
Myocarditis. Cardiomyopathies
Myocardium - metabolism
Polymorphism, Single-Stranded Conformational
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Aims Although dilated cardiomyopathy is the most frequent form of cardiomyopathy, its aetiology is still poorly understood. In about 20–30% of cases the disease is familial with a large predominance of autosomal dominant transmission. Ten different chromosomal loci have been described for autosomal dominant forms of dilated cardiomyopathy. Only two genes have been associated with pure forms (without myopathy and/or conduction disorders) of the disease, the cardiac actin and the desmin genes. Our aim was to determine the proportion of dilated cardiomyopathy affected individuals carrying a mutation in one of these two genes. Methods and Results We performed (1) a systematic polymerase chain reaction-SSCP-sequencing screening of the coding sequences of cardiac actin on DNA samples from 43 probands of dilated cardiomyopathy families and 43 sporadic cases; (2) a systematic polymerase chain reaction-SSCP-sequencing screening of the coding sequences of desmin combined with a search for the described missense mutation (Ile451Met) by restriction fragment length polymorphism analysis on DNA samples from 41 probands of dilated cardiomyopathy families and 22 sporadic cases. Conclusion None of the patients presents a mutation in any of these two genes. Consequently, the proportion of European dilated cardiomyopathy affected individuals bearing a mutation in (1) the cardiac actin gene is less than 1·2%, (2) the desmin gene is less than 1·6%.
ISSN:0195-668X
1522-9645
DOI:10.1053/euhj.2000.2245