Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex

Related Experiment Video

Updated: May 29, 2026

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice
09:00

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

Published on: August 2, 2018

Alessio Lancioni1, Ida Luisa Rotundo, Yvonne Monique Kobayashi

  • 1Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, Napoli 80131, Italy.

Human Molecular Genetics
|September 6, 2011
PubMed

Insights

Epsilon-sarcoglycan (ε-SG) may prevent heart disease in patients with alpha-sarcoglycan (α-SG) deficiency. Mice lacking both α-SG and ε-SG developed severe cardiomyopathy, suggesting ε-SG

Area of Science:

  • Muscle biology
  • Genetics
  • Cardiology

Background:

  • Mutations in sarcoglycan (SG) genes cause skeletal muscle pathology.
  • Cardiomyopathy is a rare complication in patients with α-SG gene mutations.
  • Epsilon-sarcoglycan (ε-SG) is hypothesized to compensate for α-SG deficiency in the heart.

Purpose of the Study:

  • To investigate the function of ε-SG in striated muscle.
  • To determine if ε-SG compensates for α-SG deficiency in the heart.
  • To understand the role of ε-SG in preventing cardiomyopathy.

Main Methods:

  • Generated Sgce-null mice (lacking ε-SG).
  • Generated Sgca-;Sgce-null mice (lacking both α-SG and ε-SG).
  • Phenotypic analysis of generated mouse models.

Main Results:

  • Sgce-null mice exhibited a wild-type phenotype without muscular dystrophy or heart disease.
  • Sgca-;Sgce-null mice developed progressive muscular dystrophy and severe cardiomyopathy.
  • Sgca-;Sgce-null mice showed a complete loss of residual SGs and reduced dystrophin and dystroglycan.

Conclusions:

  • Epsilon-sarcoglycan (ε-SG) plays a crucial role in preventing cardiomyopathy associated with α-SG deficiency.
  • ε-SG is important for maintaining cardiac function in the context of α-SG loss.
  • This study highlights ε-SG as a potential therapeutic target for certain muscular dystrophies.

More Related Videos

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

Assessment of Sarcoplasmic Reticulum Calcium Reserve and Intracellular Diastolic Calcium Removal in Isolated Ventricular Cardiomyocytes11:00

Assessment of Sarcoplasmic Reticulum Calcium Reserve and Intracellular Diastolic Calcium Removal in Isolated Ventricular Cardiomyocytes

Published on: September 18, 2017

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,...
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...
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
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 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...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...