Netherlands Heart Institute support the LMNA cardiac initiative to develop new strategies for prevention, diagnosis and cure of LMNA disease.
A mutation in the lamin A/C gene can lead to serious heart muscle disease. That is why a lot of research is needed to find a new solution.
A very involved family, under the leadership of researcher Rogier Veltrop (Maastricht UMC), will set up an international study. This is extraordinary because there are very few family studies in which three generations are represented, with both males and females, mutation carriers and non-mutation carriers, symptomatic and asymptomatic. It will be investigated how the DNA is read after it has been folded in the cell nucleus. With an LMNA problem, we see that the uncoiling of the DNA – in order to read DNA properly in order to make proteins – is not done correctly and efficiently.
We also want to use this family study as a precursor in the development of genetic corrections and therapies. This family, with and without the LMNA mutation, but also symptomatic and asymptomatic, has the same genetic pedigree and therefore provides reliable information.