Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

805
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
805
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

826
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
826
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

790
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
790
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

753
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
753
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

952
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
952
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

645
Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
645

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Transcriptome- and Epigenome-Wide Association Studies of Tic Spectrum Disorder in Discordant Monozygotic Twins.

Genes·2026
Same author

Target attainment of benzylpenicillin in patients with infective endocarditis.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2025
Same author

Head circumference in neonates with septal defects.

Cardiology in the young·2025
Same author

Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome.

European heart journal·2025
Same author

Missense variants in FRS3 affect body mass index in populations of diverse ancestries.

Nature communications·2025
Same author

Signal-Averaged ECG in the Diagnostic Workup for Arrhythmogenic Cardiomyopathy: Insights From the Nordic ARVC Registry.

Journal of the American Heart Association·2025

Related Experiment Video

Updated: May 3, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K

MT-CYB mutations in hypertrophic cardiomyopathy.

Christian M Hagen1, Frederik H Aidt2, Ole Havndrup3

  • 1Department of Clinical Biochemistry, Immunology, and Genetics, Statens Serum Institut Copenhagen, Denmark ; Department of Biomedical Sciences, University of Copenhagen Copenhagen, Denmark.

Molecular Genetics & Genomic Medicine
|February 6, 2014
PubMed
Summary

Rare mutations in the MT-CYB gene, which codes for cytochrome B in mitochondrial complex III, were found in hypertrophic cardiomyopathy (HCM) patients, suggesting a role in the disease.

Keywords:
CardiomyopathyDNA sequencinggenetic disordershypertrophymitochondria

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

6.6K
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

2.0K

Related Experiment Videos

Last Updated: May 3, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K
An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level
06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

6.6K
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

2.0K

Area of Science:

  • Genetics
  • Cardiology
  • Mitochondrial Biology

Background:

  • Mitochondrial dysfunction is a hallmark of heart failure.
  • Mutations in mitochondrial DNA (mtDNA), specifically MT-CYB (cytochrome B in complex III), are linked to hypertrophic cardiomyopathy (HCM).

Purpose of the Study:

  • To investigate the potential causal or modifying role of MT-CYB mutations in HCM.
  • To identify and characterize novel MT-CYB variants in Danish HCM probands.

Main Methods:

  • Sequencing of the MT-CYB gene in DNA from 91 Danish HCM patients.
  • Bioinformatics analysis, molecular modeling, and simulation of identified nonsynonymous variants.

Main Results:

  • Two germline-inherited, potentially pathogenic nonsynonymous variants, m.15024G>A (p.C93Y) and m.15482T>C (p.S246P), were identified in MT-CYB.
  • Molecular modeling indicated that p.C93Y disrupts cytochrome B's tertiary structure and heme interaction, while p.S246P alters secondary structure and protein backbone, consistent with a leaky mitochondrial dysfunction phenotype.

Conclusions:

  • Rare, potentially leaky mtDNA variants in MT-CYB can be found in HCM patients.
  • Further investigation of MT-CYB mutations in HCM patients is warranted to elucidate their role in the disease.