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 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,...
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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...

You might also read

Related Articles

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

Sort by
Same author

Emotional vigilance under perceived continuous evaluation in foreign language classrooms: evidence from Chinese university students.

Frontiers in psychology·2026
Same author

Amide-Based Polyene Cyclization: Stereoselective Construction of <i>cis</i>- or <i>trans</i>-Octahydrobenzo[<i>f</i>]isoquinolines.

Organic letters·2026
Same author

Effect of Ti Doping on the Grain Boundary Phases in Sintered Nd-Ce-Fe-B and Its Influence on the Diffusion Behavior of Heavy Rare Earth Dy.

Materials (Basel, Switzerland)·2026
Same author

Structure-Activity Studies of a Novel Opioid Cyclic Hexapeptide Modified at Gly<sup>3</sup>: Identification of Highly Potent Agonists or Antagonists of Opioid Receptors.

Journal of medicinal chemistry·2026
Same author

The diagnostic value of left atrial stiffness for heart failure with preserved ejection fraction in patients with paroxysmal atrial fibrillation.

Echo research and practice·2026
Same author

The Impact of Empowering Leadership on the Job Crafting of Knowledge Employees: A Moderated Mediating Effect Model.

Behavioral sciences (Basel, Switzerland)·2026

Related Experiment Video

Updated: May 21, 2026

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

Danon disease: focusing on heart.

Zhongwei Cheng1, Quan Fang

  • 1Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Journal of Human Genetics
|June 15, 2012
PubMed
Summary

Danon disease is a rare genetic disorder caused by LAMP2 gene mutations, leading to heart and muscle problems. Understanding the differences in male and female patients is crucial for timely diagnosis and treatment.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Background:

  • Danon disease is a rare X-linked dominant lysosomal disorder.
  • It stems from mutations in the lysosome-associated membrane protein 2 (LAMP2) gene.
  • Key features include cardiomyopathy, skeletal myopathy, and intellectual disability.

Purpose of the Study:

  • To summarize the molecular mechanisms of Danon disease.
  • To highlight the clinical and cardiac differences between male and female patients.
  • To emphasize the importance of early diagnosis and treatment.

Main Methods:

  • Review of reported LAMP2 mutations and their clinical consequences.
  • Analysis of sex-specific clinical manifestations and cardiac phenotypes.
  • Discussion of diagnostic timelines and treatment options.

More Related Videos

Lumped-Parameter and Finite Element Modeling of Heart Failure with Preserved Ejection Fraction
09:20

Lumped-Parameter and Finite Element Modeling of Heart Failure with Preserved Ejection Fraction

Published on: February 13, 2021

Related Experiment Videos

Last Updated: May 21, 2026

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

Lumped-Parameter and Finite Element Modeling of Heart Failure with Preserved Ejection Fraction
09:20

Lumped-Parameter and Finite Element Modeling of Heart Failure with Preserved Ejection Fraction

Published on: February 13, 2021

Main Results:

  • Over 60 LAMP2 mutations have been identified, causing glycogen accumulation in cardiac cells.
  • Significant sex-based differences exist in clinical presentation, with males experiencing earlier onset and specific conditions like Wolff-Parkinson-White syndrome.
  • Hypertrophic cardiomyopathy is more common in males, while females show similar rates of hypertrophic and dilated cardiomyopathy.

Conclusions:

  • Danon disease exhibits variable severity, ranging from asymptomatic cases to sudden cardiac death.
  • Early diagnosis and consideration of heart transplantation are vital due to the disease's rapid progression, especially in male patients.
  • Recognizing sex-specific differences aids in personalized management strategies for Danon disease.