Transplantation studies reveal internuclear transfer of toxic RNA in engrafted muscles of myotonic dystrophy 1 mice.

ABSTRACT:

Background

Stem cell transplantation represents a potential therapeutic option for muscular dystrophies (MD). However, to date, most reports have utilized mouse models for recessive types of MD. Here we performed studies to determine whether myotonic dystrophy 1 (DM1), an autosomal dominant type of MD, could benefit from cell transplantation.

Methods

We injected human pluripotent stem (PS) cell-derived myogenic progenitors into the muscles of a novel mouse model combining immunodeficiency and skeletal muscle pathology of DM1 and investigated transplanted mice for engraftment as well as for the presence of RNA foci and alternative splicing pattern.

Findings

Engraftment was clearly observed in recipient mice, but unexpectedly, we detected RNA foci in donor-derived engra

SUBMITTER: Mondragon-Gonzalez R 

PROVIDER: S-EPMC6796515 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature