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.”


Start typing and press Enter to search