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

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.1K
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...
2.1K
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

60
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,...
60
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

60
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...
60
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

87
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...
87
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

238
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
238
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

86
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...
86

You might also read

Related Articles

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

Sort by
Same author

Nucleotide sequence of a complementary DNA for human ST2.

Biochimica et biophysica acta·1992
Same author

[Respiratory control in diffuse interstitial lung disease].

Nihon Kyobu Shikkan Gakkai zasshi·1992
Same author

Localized, aggregative, and diffuse adherence to HeLa cells, plastic, and human small intestines by Escherichia coli isolated from patients with diarrhea.

The Journal of infectious diseases·1992
Same author

Mitogenic activity of interferon gamma on growth-arrested human vascular smooth muscle cells.

Arteriosclerosis and thrombosis : a journal of vascular biology·1992
Same author

The carboxyl terminus of RAP30 is similar in sequence to region 4 of bacterial sigma factors and is required for function.

The Journal of biological chemistry·1992
Same author

Differential metabolic patterns of iodinated versus radiometal chelated anticarcinoma single-chain Fv molecules.

Cancer research·1992

Related Experiment Video

Updated: Oct 10, 2025

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
07:44

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors

Published on: September 14, 2019

8.6K

Casimersen for Duchenne muscular dystrophy.

H Wilton-Clark1, T Yokota2,3

  • 1Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.

Drugs of Today (Barcelona, Spain : 1998)
|December 15, 2021
PubMed
Summary

Antisense-mediated exon skipping therapy, like casimersen, offers a promising treatment for Duchenne muscular dystrophy (DMD) by restoring dystrophin protein. This approach targets specific genetic mutations, aiming to improve patient outcomes for this progressive muscle-wasting disease.

Keywords:
Amondys-45Antisense therapyCasimersenDMD expression inhibitorsDuchenne muscular dystrophyExon skipping therapyGene therapyPhosphorodiamidate morpholino oligomers

More Related Videos

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

8.3K
Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice
08:13

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice

Published on: April 10, 2019

6.2K

Related Experiment Videos

Last Updated: Oct 10, 2025

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
07:44

CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors

Published on: September 14, 2019

8.6K
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

8.3K
Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice
08:13

Purification and Transplantation of Myogenic Progenitor Cell Derived Exosomes to Improve Cardiac Function in Duchenne Muscular Dystrophic Mice

Published on: April 10, 2019

6.2K

Area of Science:

  • Genetics
  • Neurology
  • Pharmacology

Background:

  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder causing progressive muscle degeneration and reduced lifespan.
  • Current treatments for DMD are limited, highlighting the need for innovative therapeutic strategies.
  • Antisense-mediated exon skipping therapy presents a promising approach to restore dystrophin production.

Purpose of the Study:

  • To review the preclinical and clinical data for casimersen, an exon skipping therapy for DMD.
  • To evaluate the pharmacokinetics and safety profile of casimersen.
  • To assess the potential of casimersen in treating DMD patients targeting exon 45.

Main Methods:

  • Review of preclinical studies investigating exon skipping mechanisms.
  • Analysis of clinical trial data for casimersen (Amondys 45).
  • Evaluation of pharmacokinetic and safety data from casimersen studies.

Main Results:

  • Casimersen targets exon 45, potentially treating approximately 8% of DMD patients.
  • The therapy aims to restore the reading frame of dystrophin transcripts, producing a partially functional protein.
  • Early data suggests casimersen's potential efficacy and safety, pending further clinical results.

Conclusions:

  • Casimersen represents a novel therapeutic option for a subset of Duchenne muscular dystrophy patients.
  • The continued approval relies on positive outcomes from ongoing Phase III trials.
  • Exon skipping therapy holds significant promise for managing DMD progression.