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Cardiomyopathies

Increased degradation of desmosomal proteins in ACM

Nature Reviews Cardiology volume 20, page 371 (2023)Cite this article

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A mutation in PKP2, the gene encoding plakophilin 2, results in reduced abundance of desmosomal proteins via a mechanism that involves the ubiquitin–proteasome system (UPS). This finding, from a study in Sci. Transl. Med., shows that desmosomal protein degradation might underlie the development of arrhythmogenic cardiomyopathy (ACM) caused by a variant in PKP2.

The investigators first assessed the pathological features of ACM in explanted heart tissue from patients with ACM with PKP2 variants. Compared with controls, tissue from patients with ACM showed desmosomal protein disarrangement and cardiac fibrosis. Human iPS-cell-derived cardiomyocytes from a patient with the PKP2 c.2013delC pathogenic variant also showed reduced desmosomal protein expression and impaired contractility.

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References

Original article

  • Tsui, H. et al. Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy. Sci. Transl. Med. 15, eadd4248 (2023)

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  1. Nature Reviews Cardiology http://www.nature.com/nrcardio/

    Karina Huynh

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  1. Karina Huynh
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Correspondence to Karina Huynh.

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Huynh, K. Increased degradation of desmosomal proteins in ACM. Nat Rev Cardiol 20, 371 (2023). https://doi.org/10.1038/s41569-023-00874-2

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  • DOI: https://doi.org/10.1038/s41569-023-00874-2

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