Congenital heart failure, a condition characterized by weakened heart muscles, can result from various factors, including hereditary mutations.
One such mutation is found in the PRDM16 gene, as initially demonstrated by Professor Sabine Klaassen and her research team in 2013.
Now, a study led by Dr. Jirko Kühnisch and Professor Klaassen from the Experimental and Clinical Research Center (ECRC) reveals the impact of PRDM16 gene mutations on heart muscle cell metabolism, highlighting significant gender differences in the disease’s manifestation.
The PRDM16 Gene Mutation
PRDM16 gene mutations can alter the metabolism of heart muscle cells, ultimately leading to heart muscle weakening, a condition associated with congenital heart failure.
This particular study delves deeper into the mechanisms behind this genetic defect using mouse models.
Gender Discrepancies in Heart Failure
Surprisingly, the research indicates that female mice with PRDM16 gene mutations experience more pronounced heart problems than their male counterparts.
Typically, males tend to develop congenital heart failure earlier and more severely.
Professor Klaassen, who specializes in cardiogenetics at the German Heart Center at Charité (DHZC), notes that this gender difference raises intriguing questions about the unique metabolism of male and female hearts.
Impacts on Heart Function
The study, initiated in 2016, demonstrates that PRDM16 gene mutations trigger heart failure in mice.
The underlying mechanism involves the modification of fat and glucose metabolism in heart cells, resulting in structural changes in the heart muscle. This includes an enlarged, spongy appearance and impaired blood-pumping capabilities.
Genetic Database for Diagnostic Use
The discovery that PRDM16 mutations can lead to metabolic heart failure has important clinical implications. It is now part of a genetic database that physicians can use to aid in the diagnosis of heart disease.
When a genetic test reveals the presence of this mutation, cardiologists can better understand the underlying cause of the heart condition.
Relevance to Older Patients
While PRDM16 mutations are primarily associated with congenital heart failure, the study suggests that these genetic changes may also play a role, albeit to a lesser extent, in heart failure occurring in older patients.
This finding underscores the potential broader relevance of PRDM16 mutations in understanding heart diseases.
Both Professor Sabine Klaassen and Dr. Jirko Kühnisch are affiliated with the German Center for Cardiovascular Research (DZHK), highlighting the significance of this research in advancing our understanding of heart-related conditions.
The study’s findings shed light on the profound impact of PRDM16 gene mutations on heart muscle cell metabolism and the development of congenital heart failure.
Furthermore, the gender differences observed in disease manifestation offer intriguing insights into the metabolic distinctions between male and female hearts.
Ultimately, this research contributes valuable knowledge to the diagnosis and management of heart diseases, potentially benefiting both congenital and age-related heart conditions.
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The research findings can be found in Cardiovascular Research.
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