Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart

Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart

Mutations in the ryanodine receptor (RyR2) gene have been linked to arrhythmia and possibly sudden cardiac death (SCD) during acute emotional stress, physical activities, or catecholamine perfusion. The most prevalent disorder is catecholaminergic polymorphic ventricular tachycardia (CPVT1). Four pr...

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Bibliographic Details
Main Authors: Roshan Paudel, Mohsin Saleet Jafri, Aman Ullah
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Current Issues in Molecular Biology
Subjects:
CPVT1
RyR2
gain-of-function
β-adrenergic
loss-of-function
EAD
Online Access:https://www.mdpi.com/1467-3045/46/11/767
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