Early consequences of the phospholamban mutation PLN-R14del+/- in a transgenic mouse model

Acta Physiol (Oxf)

16 Febbraio Feb 2024 2 months ago
  • Maione AS, Pompilio G.

The heterozygous phospholamban (PLN) mutation R14del (PLN R14del+/- ) is associated with a severe arrhythmogenic cardiomyopathy (ACM) developing in the adult. "Superinhibition" of SERCA2a by PLN R14del is widely assumed to underlie the pathogenesis, but alternative mechanisms such abnormal energy metabolism have also been reported. This work aims to (1) to evaluate Ca2+ dynamics and energy metabolism in a transgenic (TG) mouse model of the mutation prior to cardiomyopathy development; (2) to test whether they are causally connected.

Reference: Early consequences of the phospholamban mutation PLN-R14del+/- in a transgenic mouse model.
Maniezzi C, Eskandr M, Florindi C, Ferrandi M, Barassi P, Sacco E, Pasquale V, Maione AS, Pompilio G, Teixeira VON, de Boer RA, Silljé HHW, Lodola F, Zaza A. Acta Physiol (Oxf). 2024 Jan 12:e14082.

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