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

• Published in: European heart journal Vol. 21; no. 22; pp. 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: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.11.2000
• 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; Europe; Human; Congestive hypertrophic cardiomyopathy; Gene; Actin; Pathogenesis; Heart disease; Cardiovascular disease; Mutation; Myocardial disease; Genetic determinism; Desmin
• ISSN: 0195-668X; 1522-9645
• DOI: 10.1053/euhj.2000.2245

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%.