Publications by authors named "Ai Ohki"
CUG repeat RNA-dependent proteasomal degradation of MBNL1 in a cellular model of myotonic dystrophy type 1.
Biochem Biophys Res Commun
November 2024
Article Synopsis
- Myotonic dystrophy type 1 (DM1) results from an expanded non-coding CTG repeat in the DMPK gene, leading to splicing issues due to the sequestration of the splicing regulator MBNL1.
- In a DM1 model cell line, an increase in CUG repeat RNA was found to significantly decrease MBNL1 protein levels without affecting its mRNA, pointing to a possible degradation mechanism.
- Proteasome inhibitors helped recover some MBNL1 protein expression, indicating that CUG repeats might lead to MBNL1 degradation via a polyubiquitin-independent pathway, which contributes to the disease's effects.