MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.

ABSTRACT:

Aims

Myotonic dystrophy type I (DM1) is one of the most frequent muscular dystrophies in adults. Although DM1 has long been considered mainly a muscle disorder, growing evidence suggests the involvement of peripheral nerves in the pathogenicity of DM1 raising the question of whether motoneurons (MNs) actively contribute to neuromuscular defects in DM1.

Methods

By using micropatterned 96-well plates as a coculture platform, we generated a functional neuromuscular model combining DM1 and muscleblind protein (MBNL) knock-out human-induced pluripotent stem cells-derived MNs and human healthy skeletal muscle cells.

Results

This approach led to the identification of presynaptic defects which affect the formation or stability of the neuromuscular junction at an early develop

SUBMITTER: Tahraoui-Bories J 

PROVIDER: S-EPMC10107781 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature