Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes


Loss of the DnaJ domain disturbs cardiac mitochondrial structure with abnormal cristae formation and leads to mitochondrial dysfunction, suggesting that DNAJC19 plays an essential role in mitochondrial morphogenesis and biogenesis. Moreover, increased mitochondrial respiration, altered substrate utilization, increased ROS production and abnormal Ca2+ kinetics provide insights into the pathogenesis of DCMA-related cardiomyopathy. Copyright © 2023 The Author(s). Published by Elsevier GmbH.. All rights reserved.

Authors Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B
Journal Molecular metabolism
Publication Date 2024 Jan;79:101859
PubMed 38142971
PubMed Central PMC10792641
DOI 10.1016/j.molmet.2023.101859

Research Projects

Cell Lines