Publications by authors named "Charlotta Behrens"
Article Synopsis
- Primary carnitine deficiency (PCD) is a genetic disorder caused by mutations in the SLC22A5 gene, leading to muscle weakness and heart issues due to impaired carnitine transport.
- Researchers created two types of stem cell lines to better understand how OCTN2 mutations affect heart muscle cells, finding that these cells generated less force and had altered metabolic processes compared to control cells.
- The study identified ferroptosis, a specific cell death pathway, as a new mechanism potentially contributing to heart problems in PCD, highlighting the importance of OCTN2 in cardiac health.
Article Synopsis
- The study investigates the effects of a missense genetic variant in the ACTN2 gene, linked to various forms of cardiomyopathy, particularly hypertrophic cardiomyopathy.
- Using CRISPR/Cas9, researchers created two types of human stem cell-derived cardiomyocyte lines to compare the normal and mutated ACTN2 genes.
- Results showed that the mutated ACTN2 led to structural and functional issues in cardiomyocytes, including increased multinucleation and protein aggregation, and activated proteolytic systems to manage these problems, suggesting a link to cardiac diseases.
Objectives: Univentricular malformations are severe cardiac lesions with limited therapeutic options and a poor long-term outcome. The staged surgical palliation (Fontan principle) results in a circulation in which venous return is conducted to the pulmonary arteries via passive laminar flow. We aimed to generate a contractile subpulmonary neo-ventricle from engineered heart tissue (EHT) to drive pulmonary flow actively.
View Article and Find Full Text PDFMYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy. We reprogrammed skin fibroblasts from a HCM patient carrying a heterozygous MYBPC3 truncating mutation into human induced pluripotent stem cells (iPSC) and used CRISPR/Cas9 to generate bi-allelic MYBPC3 truncating mutation and isogenic control hiPSC lines.
View Article and Find Full Text PDFThe reproducibility of stem cell research relies on the constant availability of quality-controlled cells. As the quality of human induced pluripotent stem cells (hiPSCs) can deteriorate in the course of a few passages, cell banking is key to achieve consistent results and low batch-to-batch variation. Here, we provide a cost-efficient route to generate master and working cell banks for basic research projects.
View Article and Find Full Text PDFInduced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) have enormous potential for the study of human cardiac disorders. However, their physiological immaturity severely limits their utility as a model system and their adoption for drug discovery. Here, we describe maturation media designed to provide oxidative substrates adapted to the metabolic needs of human iPSC (hiPSC)-CMs.
View Article and Find Full Text PDF