Related Experiment Video

Updated: Feb 7, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

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MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic

Thiéry De Serres-Bérard1, Maya L Gosztyla2, Grady Nguyen2

  • 1Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada; CERVO Brain Research Centre, Quebec City, QC, Canada; Regenerative Medicine Division, CHU de Québec-Université Laval Research center, Quebec City, QC, Canada.

Neurobiology of Disease
|February 5, 2026
PubMed

Insights

Congenital myotonic dystrophy type 1 (DM1) disrupts brain development by affecting MBNL2 protein in crucial progenitor cells. This study reveals MBNL2’s role in corticogenesis, offering new therapeutic targets for DM1.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Myotonic dystrophy type 1 (DM1) is caused by toxic CUG-expanded DMPK transcripts.
  • These transcripts sequester Muscleblind-like (MBNL) proteins.
  • The impact on brain development in congenital DM1 (CDM) is largely unknown.

Purpose of the Study:

  • To investigate the role of MBNL2 in brain development in congenital DM1.
  • To identify the molecular mechanisms underlying CDM neuropathology.
  • To explore MBNL2 as a potential therapeutic target.

Main Methods:

  • Utilized patient-specific human induced pluripotent stem cells (hiPSCs) to generate forebrain organoids.
  • Employed genome editing to excise CTG repeats in the DMPK gene.
  • Assessed MBNL2 expression and function in outer radial glial cells.

Main Results:

  • Identified a novel role for MBNL2 in outer radial glial cells, critical for cortical expansion.
  • Demonstrated MBNL2 sensitivity in these progenitor cells.
  • Showed that expanded trinucleotide repeats directly cause defective neuronal migration and differentiation in CDM organoids.

Conclusions:

  • MBNL2 is a potential regulator of human corticogenesis.
  • RNA toxicity and MBNL2 dysfunction contribute to CDM neuropathology.
  • This research opens avenues for therapeutic strategies targeting early developmental windows in DM1.
Keywords:
Congenital myotonic dystrophyDMPKForebrain organoidsMBNLNeurogenesisOuter radial glial cells

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