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

Abstract：

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%.

journal_name

Eur Heart J

journal_title

European heart journal

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

doi

10.1053/euhj.2000.2245

subject

Has Abstract

pub_date

2000-11-01 00:00:00

pages

1872-6

issue

22

eissn

0195-668X

issn

1522-9645

pii

S0195668X00922450

journal_volume

21

pub_type

杂志文章

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