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

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.

SUBMITTER: Mogensen J 

PROVIDER: S-EPMC408458 | biostudies-other | 1999 May

REPOSITORIES: biostudies-other

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

Mogensen J J   Klausen I C IC   Pedersen A K AK   Egeblad H H   Bross P P   Kruse T A TA   Gregersen N N   Hansen P S PS   Baandrup U U   Borglum A D AD  

The Journal of clinical investigation 19990501 10

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 analy  ...[more]

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