Mutations in heart muscle cells
The “Double Dose” partnership aims to uncover how genetic mutations lead to changes in heart muscle cells that cause heart muscle disease such as cardiomyopathy.
The collaboration is led by Prof. Jolanda van der Velden and Prof. Rudolf de Boer. It involves experts from various disciplines: scientific Researchers, Cardiogeneticists and Cardiologists for adults and children.
Mutations, which cause DNA errors in the structure of the heart, cause cardiomyopathy, or heart muscle disorders. Because the genetic mutation is inherited, these mutations can affect several members of the family, which can lead to heart problems at early age. Inherited heart muscle diseases are a burden in many ways: the earlier triggers of a disease can be discovered, the earlier a treatment has to be provided to limit the damage and prevent it.
Inherited heart muscle diseases are characterized by large differences in presentation. Having such a gene mutation says nothing about the course of the disease. However, research has shown that these mutations lead to strain on the heart: this is called “metabolic stress”. Other factors, such as obesity, can make the clinical picture worse. The Double Dose Research assumes that additional stress is the central cause of early or late dysfunction of the heart. Fixing this problem can be a game-changer.
Reduced oxygen availability in muscle cells
Using data from hospitals, blood, tissue and scientific models, research shows how excess weight and muscle swelling lead to reduced oxygen availability in muscle cells, and dysfunctioning heart muscle tissue by gene carriers. It also reveals how the gene mutations affect the muscle cells themselves.
The metabolic process in the cells is disturbed, causing defects in contraction and relaxation, as well as a disturbed communication with the other cells in the heart.
The power of Biobanking
and patient data
Using patient data and the results of the study will lead to better care of cardiomyopathy patients.
The cost-effectiveness of the current Healthcare is portrayed from the perspective of patients and society.
The findings on the processes in the heart muscle cells are used for “Clinical Trials” with medication aimed to reduce tension in the cells. Double Dose has a large Biobank with body materials from many cardiomyopathy patients. It provides insights into what happens in the cells even before the disease develops and after the diagnosis has been made.
The Double Dose Research is funded by the Dutch Heart Foundation and the Dutch “Hartedroom” Foundation.