MBNL1 reverses the proliferation defect of skeletal muscle satellite cells in myotonic dystrophy type 1 by inhibiting autophagy via the mTOR pathway.

Cell Death & Disease
Kai-Yi SongXin-Yue Qin

Abstract

Skeletal muscle atrophy is one of the clinical symptoms of myotonic dystrophy type 1 (DM1). A decline in skeletal muscle regeneration is an important contributor to muscle atrophy. Skeletal muscle satellite cells (SSCs) drive skeletal muscle regeneration. Increased autophagy can reduce the proliferative capacity of SSCs, which plays an important role in the early regeneration of damaged skeletal muscle in DM1. Discovering new ways to restore SSC proliferation may aid in the identification of new therapeutic targets for the treatment of skeletal muscle atrophy in DM1. In the pathogenesis of DM1, muscleblind-like 1 (MBNL1) protein is generally considered to form nuclear RNA foci and disturb the RNA-splicing function. However, the role of MBNL1 in SSC proliferation in DM1 has not been reported. In this study, we obtained SSCs differentiated from normal DM1-04-induced pluripotent stem cells (iPSCs), DM1-03 iPSCs, and DM1-13-3 iPSCs edited by transcription activator-like (TAL) effector nucleases (TALENs) targeting CTG repeats, and primary SSCs to study the pathogenesis of DM1. DM1 SSC lines and primary SSCs showed decreased MBNL1 expression and elevated autophagy levels. However, DM1 SSCs edited by TALENs showed increased cytoplasmi...Continue Reading

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Citations

Dec 4, 2020·Biological Reviews of the Cambridge Philosophical Society·Lauren L OzimskiRuben Artero
Dec 29, 2020·Frontiers in Cell and Developmental Biology·Cristiana PerrottaClara De Palma
Mar 7, 2021·International Journal of Environmental Research and Public Health·Tiago MateusSandra Rebelo
Apr 18, 2021·Human Molecular Genetics·Ramesh S YadavaMani S Mahadevan

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Methods Mentioned

BETA
biopsy
ubiquitination
targeted modification
biopsies
protein assay
electrophoresis
transfection
PCR

Software Mentioned

GraphPad Prism
ImageJ

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