Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy
| Autor: | Stéphane Zaffran, Lilia Kraoua, Hager Jaouadi |
|---|---|
| Přispěvatelé: | Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Charles Nicolle [Tunis], Gall, Valérie |
| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: |
[SDV.GEN]Life Sciences [q-bio]/Genetics
catecholaminergic polymorphic ventricular tachycardia [SDV]Life Sciences [q-bio] Organic Chemistry excitation-contraction coupling [SDV.GEN] Life Sciences [q-bio]/Genetics General Medicine hypertrophic cardiomyopathy calcium mishandling Catalysis [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system Computer Science Applications [SDV] Life Sciences [q-bio] Inorganic Chemistry [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system Physical and Theoretical Chemistry Molecular Biology Spectroscopy |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, 2023, 24 (4), ⟨10.3390/ijms24043365⟩ |
| ISSN: | 1661-6596 1422-0067 |
| DOI: | 10.3390/ijms24043365⟩ |
| Popis: | International audience; Calcium (Ca 2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation-contraction coupling and modulating the systolic and diastolic phases. Defective handling of intracellular Ca 2+ can cause different types of cardiac dysfunction. Thus, the remodeling of Ca 2+ handling has been proposed to be a part of the pathological mechanism leading to electrical and structural heart diseases. Indeed, to ensure appropriate electrical cardiac conduction and contraction, Ca 2+ levels are regulated by several Ca 2+-related proteins. This review focuses on the genetic etiology of cardiac diseases related to calcium mishandling. We will approach the subject by focalizing on two clinical entities: catecholaminergic polymorphic ventricular tachycardia (CPVT) as a cardiac channelopathy and hypertrophic cardiomyopathy (HCM) as a primary cardiomyopathy. Further, this review will illustrate the fact that despite the genetic and allelic heterogeneity of cardiac defects, calcium-handling perturbations are the common pathophysiological mechanism. The newly identified calcium-related genes and the genetic overlap between the associated heart diseases are also discussed in this review. |
| Databáze: | OpenAIRE |
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