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Updated: Sep 26, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Functional Characterization of Endogenously Expressed Human RYR1 Variants

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Therapeutic Approaches of Ryanodine Receptor-Associated Heart Diseases

Norbert Szentandrássy1,2, Zsuzsanna É Magyar1, Judit Hevesi3

  • 1Department of Physiology, Faculty of Medicine, University of Debrecen, 98 Nagyerdei krt, 4032 Debrecen, Hungary.

International Journal of Molecular Sciences
|April 23, 2022
PubMed

Insights

Cardiac ryanopathies stem from impaired cardiac ryanodine receptor (RyR2) function, causing heart failure and arrhythmias. This review explores RyR2

Area of Science:

  • Cardiology and molecular mechanisms of cardiac diseases.

Background:

  • Cardiac diseases are a leading global cause of mortality.
  • Identifying novel therapeutic targets is crucial for managing heart conditions.
  • Cardiac ryanodine receptor (RyR2) dysfunction underlies several heart diseases, termed cardiac ryanopathies.

Purpose of the Study:

  • To review the pathological mechanisms of cardiac ryanopathies.
  • To discuss pharmacological strategies targeting RyR2 for therapeutic benefit.

Main Methods:

  • This review synthesizes current literature on RyR2 function and dysfunction in cardiac diseases.
  • It examines known pathological pathways associated with ryanopathies.
  • Pharmacological agents targeting RyR2 are discussed.

Main Results:

  • Impaired RyR2 function leads to aberrant calcium handling in cardiomyocytes.
  • This dysfunction is implicated in conditions like congestive heart failure (CHF), catecholaminergic polymorphic ventricular tachycardia (CPVT), arrhythmogenic right ventricular dysplasia type 2 (ARVD2), and calcium release deficiency syndrome (CRDS).

Conclusions:

  • RyR2 is a key player in the pathogenesis of cardiac ryanopathies.
  • Targeting RyR2 presents a promising therapeutic avenue for these debilitating heart conditions.
Keywords:
CPVTRyRcarvedilolcatecholaminergic polymorphic ventricular tachycardiacongestive heart failuredantroleneflecainideryanodine receptorryanopathies

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