Etiological research

This category includes research into the cause of the disease (left in the overview). This category can be further divided into three different levels:

  • Research at the gene level:

This subcategory includes research that takes place at the smallest level in the heart, namely at the level of DNA and genes. This research looks at how the mutation in the PLN gene leads to disease.

  • Research at the protein level:

This subcategory represents research that takes place at the level of the building blocks of cells in the body. This research examines the behavior and function of the PLN protein in the heart muscle cells.

  • Research at the macroscopic level:

This subcategory describes research on the effects of the PLN mutation at the organ level. For example, abnormalities of hearts as a result of the PLN mutation are mapped using electrocardiograms (ECG) and echocardiograms.