Key result
MBNL3 antagonizes muscle differentiation by disrupting Mef2 β-exon splicing, a process exacerbated by CUG expanded RNAs in myotonic dystrophy models.
Population
Cell culture model of myotonic dystrophy and myotonic dystrophy patient tissue
Design
Preclinical
Authors
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Hypothesis-generating for MBNL3 targeting in myotonic dystrophy muscle disease; animal data leave open human translation and clinical relevance.
MBNL3 antagonizes muscle differentiation by disrupting Mef2 β-exon splicing, suggesting a mechanism for muscle degeneration in myotonic dystrophy.
Lee et al. (2010) studied Myotonic dystrophy. MBNL3 expression and CUG expanded RNAs was evaluated on Mef2D β-exon splicing and muscle differentiation. MBNL3 antagonizes muscle differentiation by disrupting Mef2 β-exon splicing, a process exacerbated by CUG expanded RNAs in myotonic dystrophy models.