Charité Campus Virchow-Klinikum
Augustenburger Platz 1
Associated Investigator at the Berlin-Brandenburg School for Regenerative Therapies
Research group leader at Institute for Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics
Cutis laxa (CL) is the hallmark of a group of hereditary disorders with progeroid appearance due to sagging and wrinkly skin associated with fragmented dermal elastic fibres, low bone mass and variable involvement of other organ systems. We recently found mutations in two proteins residing in the Golgi compartment (ATP6V0A2, GORAB) and one mitochondrial protein (PYCR1) in three overlapping forms of autosomal recessive cutis laxa (ARCL). Further functional analyses revealed that fibroblasts from individuals with all three gene defects show not only altered secretion of ECM proteins, but also increased apoptosis rates and cellular senescence. This implies a previously unrecognized functional interplay between Golgi apparatus and mitochondria in the regulation of cell fate and survival, which we characterize using different in vitro and in vivo models.