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J Clin Invest. 1999 May 15;103(10):R39-43.

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

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1
Department of Cardiology, and Research Unit for Molecular Medicine, Skejby University Hospital, Brendstrupgaardsvej, DK-8200 Aarhus N, Denmark. skejjm@aau.dk

Abstract

We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC.

PMID:
10330430
PMCID:
PMC408458
DOI:
10.1172/JCI6460
[Indexed for MEDLINE]
Free PMC Article
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