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

Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

3.3K
Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
3.3K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.4K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

699
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
699
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

472
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...
472
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

480
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,...
480
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

416
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...
416

You might also read

Related Articles

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

Sort by
Same author

Beyond Belief? Absence of Double-Blinding and Limited Ecological Validity in Carbohydrate Loading Research.

International journal of sport nutrition and exercise metabolism·2026
Same author

A semantic segmentation model to predict subcellular glycogen localization using transmission electron microscopy images.

PloS one·2026
Same author

Prevalence and incidence of left ventricular systolic dysfunction and adverse outcomes in patients receiving <i>de novo</i> and replacement pacemaker therapy for bradycardia.

European heart journal open·2026
Same author

The long-lived immune system of centenarians.

Nature reviews. Immunology·2026
Same author

Development and Usability of the "FORTEe Get Strong" App to Promote Physical Activity and Health Awareness in Children and Adolescents With Cancer During Intensive Treatment Using an App-Based Approach: Mixed Methods Study.

JMIR serious games·2026
Same author

Beyond maternal exercise: paternal exercise adaptations mediated by sperm microRNA signatures.

Nature reviews. Urology·2026

Related Experiment Video

Updated: Jan 18, 2026

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
09:42

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Published on: December 23, 2014

21.9K

Cardiovascular involvement in glycogen storage diseases.

Tomàs Pinós1,2, Richard M Cubbon3, Alfredo Santalla4

  • 1Mitochondrial and Neuromuscular Disorders Unit, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain. tomas.pinos@vhir.org.

Nature Reviews. Cardiology
|June 5, 2025
PubMed
Summary

Glycogen storage diseases (GSDs) can impact heart function due to enzyme deficiencies. Early detection and management are crucial for preventing severe cardiovascular outcomes in affected individuals.

More Related Videos

Biochemical Titration of Glycogen In vitro
07:16

Biochemical Titration of Glycogen In vitro

Published on: November 24, 2013

28.9K
Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue
02:30

Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue

Published on: October 24, 2025

163

Related Experiment Videos

Last Updated: Jan 18, 2026

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
09:42

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Published on: December 23, 2014

21.9K
Biochemical Titration of Glycogen In vitro
07:16

Biochemical Titration of Glycogen In vitro

Published on: November 24, 2013

28.9K
Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue
02:30

Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue

Published on: October 24, 2025

163

Area of Science:

  • Biochemistry
  • Genetics
  • Cardiology

Background:

  • Glycogen storage diseases (GSDs) result from inherited enzyme deficiencies affecting glycogen metabolism.
  • While liver and muscle are primary targets, cardiac involvement is a significant concern in several GSD types.
  • Cardiovascular complications can manifest early in life, posing severe risks.

Purpose of the Study:

  • To review the mechanisms and evidence of cardiac involvement in various GSDs.
  • To highlight the importance of early diagnosis and cardiovascular risk prevention.
  • To discuss current and potential therapeutic interventions for preserving heart function.

Main Methods:

  • Literature review of pathophysiological mechanisms.
  • Analysis of preclinical, clinical, and epidemiological data on cardiovascular manifestations.
  • Synthesis of information on management strategies and molecular therapies.

Main Results:

  • GSDs are linked to diverse cardiac disorders through impaired glycogen synthesis or breakdown.
  • Cardiovascular consequences can be severe, even in infancy.
  • Evidence supports the role of lifestyle and targeted therapies in managing cardiac impact.

Conclusions:

  • Cardiovascular complications are a critical aspect of GSDs requiring vigilant monitoring.
  • Integrated management strategies, including nutritional and exercise changes, are vital.
  • Further research into molecular therapies holds promise for addressing underlying metabolic defects and improving cardiac outcomes.