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 Experiment Video

Updated: Jan 6, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

15.9K

FISH Protocol for Myotonic Dystrophy Type 1 Cells.

Arnaud F Klein1,2,3, Ludovic Arandel1,2,3, Joelle Marie1,2,3

  • 1Centre de Recherche en Myologie, Sorbonne Univeristé, Paris, France.

Methods in Molecular Biology (Clifton, N.J.)
|October 6, 2019
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1.

Journal of cachexia, sarcopenia and muscle·2025
Same author

Small nucleolar RNAs promote the restoration of muscle differentiation defects in cells from myotonic dystrophy type 1.

Nucleic acids research·2025
Same author

MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.

Brain : a journal of neurology·2024
Same author

Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin-desmin double knockout (DKO) mouse.

The Journal of physiology·2024
Same author

Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy.

PloS one·2024
Same author

Valproic acid reduces muscle susceptibility to contraction-induced functional loss but increases weakness in two murine models of Duchenne muscular dystrophy.

Clinical and experimental pharmacology & physiology·2023

Researchers developed new methods to detect toxic RNA foci in myotonic dystrophy type 1 (DM1) cells. These techniques visualize expanded CUG repeats and their interaction with the MBNL1 splicing factor, aiding disease understanding.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Myotonic dystrophy type 1 (DM1) is an RNA-dominant disease characterized by expanded CUG repeats in DMPK transcripts.
  • These mutant transcripts form nuclear foci that sequester the MBNL1 splicing factor, a key pathological hallmark.
  • Understanding the spatial relationship between CUG repeat RNA and MBNL1 is crucial for DM1 pathogenesis.

Purpose of the Study:

  • To describe robust fluorescent in situ hybridization (FISH) techniques for detecting expanded CUG repeat RNA and DMPK transcripts.
  • To establish a combined FISH and immunofluorescence protocol for visualizing MBNL1 colocalization with nuclear CUGexp-RNA foci.
  • To provide tools for studying the molecular mechanisms underlying DM1.

Main Methods:

  • Fluorescent in situ hybridization (FISH) was employed to detect specific RNA transcripts.
Keywords:
CUG expansionDMPK transcriptsFluorescent in situ hybridizationImmunofluorescenceMBNL1Myotonic dystrophyNuclear RNA foci

More Related Videos

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.0K
Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

7.4K

Related Experiment Videos

Last Updated: Jan 6, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

15.9K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.0K
Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

7.4K
  • FISH was optimized to visualize expanded CUG repeats (CUGexp) and total DMPK transcripts.
  • A dual-labeling protocol combining FISH with immunofluorescence was developed to assess MBNL1 protein localization relative to CUGexp-RNA foci.

    • Main Results:

    • Successful detection of nuclear CUGexp-RNA foci in DM1 cells using FISH.
    • Visualization of DMPK transcripts in both DM1 and wild-type (WT) cells.
    • Demonstrated colocalization of the MBNL1 splicing factor with CUGexp-RNA foci in DM1 patient cells.

    Conclusions:

    • The described FISH and FISH/immunofluorescence methods are effective for studying DM1 at the cellular level.
    • These techniques enable the direct visualization of key pathogenic elements, including CUGexp-RNA foci and MBNL1 sequestration.
    • The developed protocols offer valuable tools for further research into DM1 pathology and potential therapeutic strategies.