New Research: How Does Metabolism Change in the Hearts of Patients
with Obstructive Hypertrophic Cardiomyopathy (oHCM)?
Hypertrophic cardiomyopathy ( HCM ) is caused in many patients by hereditary predisposition. However, HCM can also develop without a detectable genetic cause.
Obstructive HCM (oHCM) is more common in patients where no known genetic cause is found. Since a hereditary cause cannot be demonstrated in this group of patients, we are investigating which factors are altered and whether there is a difference between oHCM patients with and without proven genetic predisposition.
Essential metabolism
HCM can thus have various causes, which are likely to lead to the development and worsening of the disease in different ways. Scientists on the team of Prof. J. van der Velden, in collaboration with international partners, have conducted research into this.
The question was whether metabolism, which is essential for the proper functioning of the heart, changes differently in patients with and without proven genetic causes? To investigate this, heart tissue from a large number of patients was examined. This tissue was obtained during heart surgeries in oHCM patients*. In this tissue, the researchers measured a large number of metabolic products.
Drastic differences...
It was found that patients with proven genetic predisposition had drastic differences in the levels of certain metabolic products. This was related to the extent of heart involvement. The main finding was that the levels of molecular building blocks, such as those for DNA and proteins, increased in genetically proven forms of HCM and decreased in patients without proven genetic causes.
This type of information is crucial for developing therapies specific to HCM patients with and without demonstrated hereditary predisposition.
What does this surprising result mean?
At this moment, it does not signify a change or breakthrough in treatment. It is important to realize that scientific research reveals a lot, but such distinct outcomes between patient groups raise new questions.
This demands explanations of how these differences arise. This takes time because it not only requires looking at the form of HCM but also at how HCM develops, leading to molecular changes. This makes it even more complex.
Step by step progress...
Is the treatment currently different for HCM patients with and without proven genetic predisposition? The answer is: no, not yet.
The reason is that the clinical diversity has so far paralleled between groups with and without proven genetic predisposition. We also know that a new type of medication, myosin inhibitors, can act on the cellular level, directly at the point where things go wrong in the heart muscle. This medication works for oHCM patients both with and without proven genetic predisposition. However, for some patients, even this new medication does not work… The reason for this is currently being investigated.
Thus, we are progressing step by step, but new challenges continue to arise.
* A myectomy is a surgery in which heart tissue is cut or shaved internally to ensure the blood flow can be squeezed unimpeded during each heartbeat
into the body’s main artery, the aorta.
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