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%. Copyright 2000 The European Society of Cardiology.
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%. Copyright 2000 The European Society of Cardiology.
Authors: N Sylvius; Z T Bilinska; J P Veinot; A Fidzianska; P M Bolongo; S Poon; P McKeown; R A Davies; K-L Chan; A S L Tang; S Dyack; J Grzybowski; W Ruzyllo; H McBride; F Tesson Journal: J Med Genet Date: 2005-08 Impact factor: 6.318
Authors: Satu Kärkkäinen; Raija Miettinen; Petri Tuomainen; Päivi Kärkkäinen; Tiina Heliö; Eeva Reissell; Maija Kaartinen; Lauri Toivonen; Markku S Nieminen; Johanna Kuusisto; Markku Laakso; Keijo Peuhkurinen Journal: J Mol Med (Berl) Date: 2003-10-15 Impact factor: 4.599
Authors: P Sébillon; C Bouchier; L D Bidot; G Bonne; K Ahamed; P Charron; V Drouin-Garraud; A Millaire; G Desrumeaux; A Benaïche; J-C Charniot; K Schwartz; E Villard; M Komajda Journal: J Med Genet Date: 2003-08 Impact factor: 6.318