Research Focus

Unequal allelic expression (from cell to cell) as a pathomechanism for hypertrophic cardiomyopathy

We are investigating the unequal expression of the wild-type and mutated alleles in heterozygous patients with hypertrophic cardiomyopathy as a possible pathomechanism.

In previous studies, our department demonstrated that a patient’s cardiomyocytes generate vastly different forces at the same calcium concentration. We have hypothesized that this functional variability between neighboring cardiomyocytes disrupts the cellular network of the myocardium, thereby leading to typical features of HCM such as cellular and myofibrillar disarray, hypertrophy, and fibrosis (the “contractile imbalance”hypothesis).

For more information, please visit the Kowalski Research Group ’s website.