Josine de Winter received an award of 50.000 euros for her “Crazy idea” during the Young@Heart Talent Day. The project is connected to CVON-DOSIS.
Josine the Winter (VUmc):
“Nemaline myopathy is a skeletal muscle disorder, caused by mutations in genes encoding thin filament proteins. Recently, we found that a new form – NEM6, caused by the novel Dutch founder mutation in KBTBD13 (KBTBD13Arg408Cys) – also involves cardiac dysfunction. Recent localization studies from our group revealed that KBTBD13 – a novel protein – localizes within mitochondria, and that Kbtbd13-knockout mice cannot respond adequately to acute cardiac stress. Mitochondrial calcium fluxes are a key player in matching acute ATP production to cardiac workload. Hence, this proposal aims to unravel how KBTBD13 regulates mitochondrial calcium function in striated muscle in health and disease.”