Key result
Precision medicine approaches, such as gene editing and selective gene silencing, offer potential targeted therapies for the underlying pathophysiological mechanisms of PLN R14del cardiomyopathy.
Why the study?
Standard heart failure therapies targeting neurohormonal dysregulations modulate symptoms but fail to address underlying causes, prompting the need for precision medicine approaches targeting specific pathophysiological mechanisms.
Precision medicine approaches, such as gene editing and silencing, offer promising targeted therapies for genetic cardiomyopathies like PLN R14del by addressing the underlying genetic and molecular causes rather than just modulating symptoms.
Answers are grounded in this paper and cite their sources.
Should not yet change practice in PLN R14del cardiomyopathy; leaves open targeted gene therapies for prospective trials.
PURPOSE OF REVIEW: Heart failure is a syndrome with poor prognosis and no curative options for the majority of patients. The standard one-size-fits-all-treatment approach, targeting neurohormonal dysregulations, helps to modulate symptoms of heart failure, but fails to address the cause of the problem. Precision medicine aims to go beyond symptom modulation and targets pathophysiological mechanisms that underlie disease. In this review, an overview of how precision medicine can be approached as a treatment strategy for genetic heart disease will be discussed. PLN R14del, a genetic mutation known to cause cardiomyopathy, will be used as an example to describe the potential and pitfalls of precision medicine. RECENT FINDINGS: PLN R14del is characterized by several disease hallmarks including calcium dysregulation, metabolic dysfunction, and protein aggregation. The identification of disease-related biological pathways and the effective targeting using several modalities, including gene silencing and signal transduction modulation, may eventually provide novel treatments for genetic heart disease. We propose a workflow on how to approach precision medicine in heart disease. This workflow focuses on deep phenotyping of patient derived material, including in vitro disease modeling. This will allow identification of therapeutic targets and disease modifiers, to be used for the identification of novel biomarkers and the development of precision medicine approaches for genetic cardiomyopathies.
No takes yet. Share an insight, caveat, or question.
Deiman et al. (2022) conducted a review in Genetic Cardiomyopathy (Phospholamban R14del-associated cardiomyopathy). Precision Medicine Approaches (e.g., Gene Editing, Gene Silencing) was evaluated. Precision medicine approaches, such as gene editing and selective gene silencing, offer potential targeted therapies for the underlying pathophysiological mechanisms of PLN R14del cardiomyopathy.
Synapse has enriched 10 related papers. Consider them for comparative context: