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 I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

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...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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...

You might also read

Related Articles

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

Sort by
Same author

A pleiotropic <i>EPAS1</i> enhancer mediating Tibetan adaptation to hypoxia is active in adipocytes.

bioRxiv : the preprint server for biology·2026
Same author

Hypertension Prevalence, Awareness, Treatment, and Control Among Community-Dwelling Adults in Low-Resource Neighborhoods of Chicago, Illinois.

American journal of health promotion : AJHP·2026
Same author

Comparison of Diastolic Function Parameters After Alcohol Septal Ablation and Mavacamten Therapy in Obstructive Hypertrophic Cardiomyopathy.

Journal of cardiovascular development and disease·2026
Same author

Protein-protein interactions shape trans-regulatory impact of genetic variation on protein expression and complex traits.

Nature genetics·2026
Same author

Author Correction: Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.

Nature genetics·2025
Same author

Precision Medicine and the FDA Modernization Act 2.0: Catalyzing Innovation in Cardiovascular Therapy.

Circulation. Genomic and precision medicine·2025

Related Experiment Video

Updated: Jun 30, 2026

Generation, High-Throughput Screening, and Biobanking of Human-Induced Pluripotent Stem Cell-Derived Cardiac Spheroids
09:23

Generation, High-Throughput Screening, and Biobanking of Human-Induced Pluripotent Stem Cell-Derived Cardiac Spheroids

Published on: March 10, 2023

Engineered Heart Tissues Facilitate Noncoding Variant Studies in Cardiomyopathy.

Zachary T Weber1, Tanner O Monroe2,3, Cory Holgren2

  • 1Department of Human Genetics (Z.T.W., R.M.M., L.Z., A.G.T., I.M.S., X.L., M.A.N.), University of Chicago, IL.

Circulation Research
|June 29, 2026
PubMed
Summary

Engineered heart tissues (EHTs) reveal noncoding variants impacting cardiomyopathy. Functional studies using EHTs identified a novel enhancer region regulating SLC6A6 and GRIP2, crucial for myocardial function and polygenic heart failure.

Keywords:
cardiovascular diseaseschromatinfibroblastsgene expressionhaplotypes

More Related Videos

Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells
13:18

Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells

Published on: June 28, 2013

Generation of Ventricular-Like HiPSC-Derived Cardiomyocytes and High-Quality Cell Preparations for Calcium Handling Characterization
08:06

Generation of Ventricular-Like HiPSC-Derived Cardiomyocytes and High-Quality Cell Preparations for Calcium Handling Characterization

Published on: January 17, 2020

Related Experiment Videos

Last Updated: Jun 30, 2026

Generation, High-Throughput Screening, and Biobanking of Human-Induced Pluripotent Stem Cell-Derived Cardiac Spheroids
09:23

Generation, High-Throughput Screening, and Biobanking of Human-Induced Pluripotent Stem Cell-Derived Cardiac Spheroids

Published on: March 10, 2023

Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells
13:18

Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells

Published on: June 28, 2013

Generation of Ventricular-Like HiPSC-Derived Cardiomyocytes and High-Quality Cell Preparations for Calcium Handling Characterization
08:06

Generation of Ventricular-Like HiPSC-Derived Cardiomyocytes and High-Quality Cell Preparations for Calcium Handling Characterization

Published on: January 17, 2020

Area of Science:

  • Cardiovascular Genetics
  • Stem Cell Biology
  • Epigenomics

Background:

  • Cardiomyopathies often stem from rare genetic variants, but genome-wide association studies (GWAS) indicate significant polygenic contributions.
  • Many GWAS loci are in noncoding DNA, necessitating experimental validation within a human genome context.

Purpose of the Study:

  • To develop and utilize engineered heart tissues (EHTs) for functional characterization of noncoding variants associated with cardiomyopathy.
  • To integrate multi-omics data for fine-mapping GWAS loci and identifying regulatory elements influencing cardiac function.

Main Methods:

  • Created EHTs from human induced pluripotent stem cell-derived cardiomyocytes and cardiac fibroblasts.
  • Generated single-cell gene expression and chromatin accessibility maps to create genome-wide regulatory maps.
  • Integrated open chromatin regions with chromatin contact data for fine-mapping GWAS single-nucleotide polymorphisms (SNPs) and validated using reporter assays and genome editing.

Main Results:

  • EHT single-cell RNA-seq demonstrated advanced cardiomyocyte maturation. Over 400,000 open chromatin regions were identified and cell-typed.
  • Functional fine-mapping prioritized 5,817 variants, with reporter assays confirming allele-specific enhancer activity.
  • An intergenic locus (chr3p25.1) showed long-range interactions with SLC6A6 and GRIP2; CRISPR deletion reduced gene expression and EHT contractile function.

Conclusions:

  • EHTs provide a tractable platform for testing the functional impact of noncoding variants in cardiomyopathy.
  • Fine-mapped variants using EHT regulatory maps have functional consequences and prioritize sites for studying polygenic heart failure.