Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic arrhythmic syndrome caused by mutations in the calcium (Ca2+) release channel ryanodine receptor (RyR2) and its accessory proteins. These mutations make the channel leaky, resulting in Ca2+-dependent arrhythmias. B...

Full description

Saved in:
Bibliographic Details
Main Authors: Arpita Deb, Brian D. Tow, Jie Hao, Branden L. Nguyen, Valeria Gomez, James A. Stewart, Jr, Ashley J. Smuder, Bjorn C. Knollmann, Ying Wang, Bin Liu
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Journal of Molecular and Cellular Cardiology Plus
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2772976124000333
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1846121934723481600
author Arpita Deb
Brian D. Tow
Jie Hao
Branden L. Nguyen
Valeria Gomez
James A. Stewart, Jr
Ashley J. Smuder
Bjorn C. Knollmann
Ying Wang
Bin Liu
author_facet Arpita Deb
Brian D. Tow
Jie Hao
Branden L. Nguyen
Valeria Gomez
James A. Stewart, Jr
Ashley J. Smuder
Bjorn C. Knollmann
Ying Wang
Bin Liu
author_sort Arpita Deb
collection DOAJ
description Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic arrhythmic syndrome caused by mutations in the calcium (Ca2+) release channel ryanodine receptor (RyR2) and its accessory proteins. These mutations make the channel leaky, resulting in Ca2+-dependent arrhythmias. Besides arrhythmias, CPVT hearts typically lack structural cardiac remodeling, a characteristic often observed in other cardiac conditions (heart failure, prediabetes) also marked by RyR2 leak. Recent studies suggest that mitochondria are able to accommodate more Ca2+ influx to inhibit arrhythmias in CPVT. Thus, we hypothesize that CPVT mitochondria can absorb diastolic Ca2+ to protect the heart from cardiac remodeling. Methods and results: The Mitochondrial Ca2+ uniporter (MCU), the main mitochondrial Ca2+ uptake protein, was conditionally knocked out in a CPVT model of calsequestrin 2 (CASQ2) KO. In vivo cardiac function was impaired in the CASQ2−/−-MCUCKO model as assessed by echocardiography. Cardiac dilation and cellular hypertrophy were also observed in the CASQ2−/−-MCUCKO hearts. Live-cell imaging identified altered Ca2+ handling and increased oxidative stress in CASQ2−/−-MCUCKO myocytes. The activation status of Ca2+-dependent remodeling pathways (CaMKII, Calcineurin) was not altered in the CASQ2−/−-MCUCKO model. RNAseq identified changes in the transcriptome of the CASQ2−/−-MCUCKO hearts, distinct from the classic cardiac remodeling program of fetal gene re-expression. Conclusions: We present genetic evidence that mitochondria play a protective role in CPVT. MCU-dependent Ca2+ uptake is crucial for preventing pathological cardiac remodeling in CPVT.
format Article
id doaj-art-0d1bf4464fc44ee5952fe594a9b9b7b8
institution Kabale University
issn 2772-9761
language English
publishDate 2024-12-01
publisher Elsevier
record_format Article
series Journal of Molecular and Cellular Cardiology Plus
spelling doaj-art-0d1bf4464fc44ee5952fe594a9b9b7b82024-12-15T06:19:08ZengElsevierJournal of Molecular and Cellular Cardiology Plus2772-97612024-12-0110100093Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVTArpita Deb0Brian D. Tow1Jie Hao2Branden L. Nguyen3Valeria Gomez4James A. Stewart, Jr5Ashley J. Smuder6Bjorn C. Knollmann7Ying Wang8Bin Liu9Department of Biological Sciences, Mississippi State University, Starkville, MS 39762, USADepartment of Biological Sciences, Mississippi State University, Starkville, MS 39762, USAPlant Pathology Department, University of Florida, Gainesville, FL 32611, USADepartment of Applied Physiology and Kinesiology, University of Florida, Gainesville, FL 32611, USAFood Science and Human Nutrition Department, University of Florida, Gainesville, FL 32611, USASchool of Pharmacy, Department of BioMolecular Sciences, University of Mississippi, Oxford, MS 38677, USADepartment of Applied Physiology and Kinesiology, University of Florida, Gainesville, FL 32611, USADepartment of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USADepartment of Biological Sciences, Mississippi State University, Starkville, MS 39762, USA; Plant Pathology Department, University of Florida, Gainesville, FL 32611, USADepartment of Biological Sciences, Mississippi State University, Starkville, MS 39762, USA; Food Science and Human Nutrition Department, University of Florida, Gainesville, FL 32611, USA; Corresponding author at: room 359, 572 Newell Dr, Gainesville, FL 32611, USA.Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic arrhythmic syndrome caused by mutations in the calcium (Ca2+) release channel ryanodine receptor (RyR2) and its accessory proteins. These mutations make the channel leaky, resulting in Ca2+-dependent arrhythmias. Besides arrhythmias, CPVT hearts typically lack structural cardiac remodeling, a characteristic often observed in other cardiac conditions (heart failure, prediabetes) also marked by RyR2 leak. Recent studies suggest that mitochondria are able to accommodate more Ca2+ influx to inhibit arrhythmias in CPVT. Thus, we hypothesize that CPVT mitochondria can absorb diastolic Ca2+ to protect the heart from cardiac remodeling. Methods and results: The Mitochondrial Ca2+ uniporter (MCU), the main mitochondrial Ca2+ uptake protein, was conditionally knocked out in a CPVT model of calsequestrin 2 (CASQ2) KO. In vivo cardiac function was impaired in the CASQ2−/−-MCUCKO model as assessed by echocardiography. Cardiac dilation and cellular hypertrophy were also observed in the CASQ2−/−-MCUCKO hearts. Live-cell imaging identified altered Ca2+ handling and increased oxidative stress in CASQ2−/−-MCUCKO myocytes. The activation status of Ca2+-dependent remodeling pathways (CaMKII, Calcineurin) was not altered in the CASQ2−/−-MCUCKO model. RNAseq identified changes in the transcriptome of the CASQ2−/−-MCUCKO hearts, distinct from the classic cardiac remodeling program of fetal gene re-expression. Conclusions: We present genetic evidence that mitochondria play a protective role in CPVT. MCU-dependent Ca2+ uptake is crucial for preventing pathological cardiac remodeling in CPVT.http://www.sciencedirect.com/science/article/pii/S2772976124000333RyR2 leakCa2+-dependent cardiomyopathy
spellingShingle Arpita Deb
Brian D. Tow
Jie Hao
Branden L. Nguyen
Valeria Gomez
James A. Stewart, Jr
Ashley J. Smuder
Bjorn C. Knollmann
Ying Wang
Bin Liu
Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT
Journal of Molecular and Cellular Cardiology Plus
RyR2 leak
Ca2+-dependent cardiomyopathy
title Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT
title_full Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT
title_fullStr Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT
title_full_unstemmed Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT
title_short Conditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT
title_sort conditional ablation of mcu exacerbated cardiac pathology in a genetic arrhythmic model of cpvt
topic RyR2 leak
Ca2+-dependent cardiomyopathy
url http://www.sciencedirect.com/science/article/pii/S2772976124000333
work_keys_str_mv AT arpitadeb conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT briandtow conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT jiehao conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT brandenlnguyen conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT valeriagomez conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT jamesastewartjr conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT ashleyjsmuder conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT bjorncknollmann conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT yingwang conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt
AT binliu conditionalablationofmcuexacerbatedcardiacpathologyinageneticarrhythmicmodelofcpvt