Key result
MBNL1, but not CUG-BP or PKR, specifically interacted with both CUG and CCUG repeats, preferring bulge-containing double-stranded RNAs with CHHG and CHG repetitive sequences.
Population
Yeast three-hybrid system and synthetic RNAs (in vitro/preclinical model of myotonic dystrophy)
Design
Preclinical
Authors
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MBNL1 binding to expanded repeats supports its role in myotonic dystrophy pathogenesis; leaves open targeted therapies pending human validation.
MBNL1 specifically binds to CHHG and CHG repeats, suggesting its role in the pathogenesis of myotonic dystrophy through interaction with expanded CUG/CCUG repeats.
Yoshihiro Kino (2004) studied Myotonic dystrophy. MBNL1/EXP, CUG-BP, and PKR proteins was evaluated on RNA-binding properties to CUG and CCUG repeats. MBNL1, but not CUG-BP or PKR, specifically interacted with both CUG and CCUG repeats, preferring bulge-containing double-stranded RNAs with CHHG and CHG repetitive sequences.
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