I studied biology and zoology with a focus on physiology and electrophysiology. My main interest is the regulation of ion channels, especially the ryanodine receptor (RYR1), which is responsible for the Ca2+ release in skeletal muscle cells during muscle activity. Pathological dysregulation of Ca2+ homeostasis in skeletal muscle due to ryanodine receptor mutations can cause diverse disorders with malignant hyperthermia (MH) being one of them. MH is a disposition where individuals react to volatile anaesthetics with an increase in body temperature forcing anaesthetists to terminate a surgical intervention. Most MH cases are caused by mutations in the RYR1 which enables us to develop a genetic test for MH instead of the currently common and invasive in vitro contracture test. To expand the list of acknowledged MH mutations, we try to characterize newly found mutations in the RYR1 on the functional level with different methods such as Ca2+ imaging, electrophysiology of single cells and single channels and investigate the influence of mutations on the regulation of protein expression in skeletal muscle cells.
Weigl L. G, Hohenegger M, Kress H G (2000): Dihydropyridine-induced Ca2+ release from ryanodine-sensitive Ca2+ pools in human skeletal muscle cells. J. Physiol. 525: 461-469.
Weigl L. G, Schreibmayer W (2001): G Protein-gated inwardly rectifying potassium channels are targets for volatile anesthetics. Mol. Pharmacol. 60 (2): 282-289.
Milovic S, Steinecker-Frohnwieser B, Schreibmayer W, Weigl L G (2004): The sensitivity of G protein-activated K+ channels toward halothane is essentially determined by the C-terminus. J. Biol. Chem. 279 (33), 34240-34249.
Kaufman A, Kraft B, Michalek-Sauberer A, Weigl L (2008): Novel Ryanodine Receptor Mutation That May Cause Malignant Hyperthermia. Anesthesiology 109: 457-464.
Kaufmann A, Kraft B, Michalek-Sauberer A, Weindlmayr M, Kress HG, Steinboeck F, Weigl L (2012): Novel Double and Single Ryanodine Receptor 1 Variants in Two Austrian Malignant Hyperthermia Families. Anesth. Analg. 114 (5): 1017-1025.