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ACTN2 Implicated in Hypertrophic Cardiomyopathy

Last Updated: December 17, 2009.

THURSDAY, Dec. 17 (HealthDay News) -- Mutations in the alpha-actinin-2 (ACTN2) gene appear to cause hypertrophic cardiomyopathy (HCM), according to research published online Dec. 16 in the Journal of the American College of Cardiology.

Christine Chiu, of the Centenary Institute in Newtown, Australia, and colleagues analyzed data from a genome-wide linkage analysis of 23 members of a large family with clinically heterogenous HCM. Some members were deemed unaffected, while several had severe heart failure and another died suddenly at age 36 with features consistent with HCM.

The researchers note that a missense mutation in ACTN2 was found in all affected family members but not 260 control samples. ACTN2 is a protein that anchors and cross-links actin filaments in the sarcomere Z-disc. In another group of 297 HCM probands, three additional variants were found in ACTN2 in individuals in four families.

"The identification of ACTN2 as a causative disease gene in HCM, based on both genome-wide and candidate gene approaches, highlights the importance of trying to identify a genetic cause in those patients with HCM in whom screening results of known sarcomere genes are negative. Knowledge of the causative gene mutation has significant clinical implications both in terms of diagnosis and in identifying family members at risk of developing disease," the authors write.

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