Cardiomyocyte hyperplasia and immaturity but not hypertrophy are characteristic features of patients with RASopathies

RASopathies are caused by mutations in genes that alter the MAP kinase pathway and are marked by several malformations with cardiovascular disorders as the predominant cause of mortality. Mechanistic insights in the underlying pathogenesis in affected cardiac tissue are rare. The aim of the study was to assess the impact of RASopathy causing mutations on the human heart.

Source: Journal of Molecular and Cellular Cardiology - March 20, 2023 Category: Cytology Authors: J örg-Detlef Drenckhahn, Luka Nicin, Sara Akhouaji, Svenja Krück, Anna Eva Blank, Anne Schänzer, Uygar Yörüker, Christian Jux, Lukas Tombor, Wesley Abplanalp, David John, Andreas M. Zeiher, Stefanie Dimmeler, Stefan Rupp Source Type: research