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Investigating Filamin C’s Function in Cardiomyopathy

  • Author(s): Xu, Yujun
  • Advisor(s): Chen, Ju
  • et al.
No data is associated with this publication.

Filamin C is a multi-domain, actin-binding and actin-crosslinking protein,

specifically expressed in cardiac and skeletal muscles. Multiple mutation points within FlnC have be identified and related to cardiac diseases, such as dilated cardiomyopathy, hypertrophic cardiomyopathy and restrictive cardiomyopathy. As one of the cytoskeleton proteins in the cardiomyocytes, FlnC has also been reported to play an important role in maintaining the integrity and stability of the sarcomere structure and a linkage to the sarcolemma. However, the precise role of FlnC in the cardiomyocytes and the underlying mechanisms by which FlnC deficiency causes cardiomyopathy is still unclear. Previous studies have revealed that truncation mutation of FlnC in mouse model resulted in embryonic lethality without significant cardiac phenotypes, and loss of FlnC in fish model resulted in heart ruptures. In this study, by generating a true null FlnC mouse model, we located the place where the cardiac structural integrity was largely alternated. We also visualized the rupture by 3D model. We will look into the specific mechanism which leads the rupture in the future.

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This item is under embargo until July 7, 2022.