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Related Experiment Video

Updated: Aug 29, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

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Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free

Yu-Chih Tsai1, Laure de Pontual2, Cheryl Heiner1

  • 1Pacific Biosciences, Menlo Park, California.

The Journal of Molecular Diagnostics : JMD
|September 9, 2022
PubMed
Summary

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Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity.

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A new, amplification-free sequencing method accurately measures CTG repeat expansions in myotonic dystrophy type 1 (DM1). This breakthrough improves diagnosis and understanding of DM1 severity and onset.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Myotonic dystrophy type 1 (DM1) presents with diverse clinical symptoms due to unstable CTG repeat expansions in the DMPK gene.
  • Accurate quantification of repeat number, interruptions, and somatic mosaicism is crucial for understanding DM1 variability but is limited by current gold-standard methods.

Purpose of the Study:

  • To develop and validate an amplification-free, long-read sequencing method for precise analysis of CTG repeat expansions in DM1.
  • To overcome the limitations of PCR-based methods in accurately assessing repeat numbers and variations.

Main Methods:

  • Utilized CRISPR/Cas9 technology to target the DMPK locus for sequencing.
  • Employed single-molecule, real-time sequencing without PCR amplification to analyze expanded CTG repeats in DM1 patients.

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  • Sequenced alleles with repeat expansions ranging from 130 to over 1000 CTG repeats.

    • Main Results:

    • The amplification-free method demonstrated improved accuracy in measuring inherited repeat numbers and somatic variations compared to amplicon-based sequencing.
    • Successfully identified a novel DM1 family with an atypical clinical profile, revealing an expansion with over 85% CCG repeats.
    • Elimination of PCR bias enhances the precision of repeat number determination, a key factor in DM1 severity and age of onset.

    Conclusions:

    • No-amplification targeted sequencing offers a promising advancement for DM1 research and clinical diagnostics.
    • This innovative method has significant translational implications for improving genetic counseling and patient management in DM1.
    • Accurate characterization of repeat expansions is essential for understanding DM1 pathogenesis and clinical heterogeneity.