Role of CEFIP, a Novel Z-disc Protein, in Cardiac Hypertrophy and Cardiomyopathy

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The sarcomeric Z-disc has recently been recognized as a nodal point in cardiomyocyte function and signalling. Moreover, the Z-disc has emerged as a “hot spot” for inherited cardioyopathies and muscular dystrophy, as causal mutations have been found in numerous Zdisc proteins. In an effort to identify novel Z-disc proteins we have previously described the calsarcins, a new family of striated muscle-specific proteins. Recently, we have also discovered CEFIP (Cardiac-enriched FHL-2 interacting protein), another novel 170 kDa Zdisc protein, which directly interacts with the titin- and filamin-binding protein FHL-2, known to be involved in intracellular signal transduction and in the pathogenesis of cardiac hypertrophy. The aim of the current proposal is to further elucidate the molecular functions of CEFIP and its potential role in the pathogenesis of cardiomyopathy, utilizing both in vitro as well as in vivo experiments.