iScience | VOL. 25
Read

Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening.

Publication Date May 20, 2022

Abstract

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are common forms of adult onset muscular dystrophy. Pathogenesis in both diseases is largely driven by production of toxic-expanded repeat RNAs that sequester MBNL RNA-binding proteins, causing mis-splicing. Given this shared pathogenesis, we hypothesized that diamidines, small molecules that rescue mis-splicing in DM1 models, could also rescue mis-splicing in DM2 models. While several DM1 cell models exist, few are available for DM2 limiting research and therapeutic development. Here, we characterize DM1 and DM2 patient-derived fibroblasts for use in small molecule screens and therapeutic studies. We identify mis-splicing events unique to DM2 fibroblasts and common events shared with DM1 fibroblasts. We show that diamidines can partially rescue molecular phenotypes in both DM1 and DM2 fibroblasts. This study demonstrates the potential of fibroblasts as models for DM1 and DM2, which will help meet an important need for well-characterized DM2 cell models.

Concepts
Powered ByUnsilo

Small Molecule Screening
Cell Lines For Use
DM1 Models
Shared Pathogenesis
Myotonic Dystrophy
Therapeutic Studies
Therapeutic Development
Phenotypes In Fibroblasts
Cell Models
Production Of RNAs

Introducing Weekly Round-ups!Beta

Powered by R DiscoveryR Discovery

Round-ups are the summaries of handpicked papers around trending topics published every week. These would enable you to scan through a collection of papers and decide if the paper is relevant to you before actually investing time into reading it.

Climate change Research Articles published between Jun 20, 2022 to Jun 26, 2022

R DiscoveryJun 27, 2022
R DiscoveryArticles Included:  2

One eighth of the bird species in the world is considered globally threatened; the avifauna of Iraq comprises 409 species and is considered as the maj...

Read More

Coronavirus Pandemic

You can also read COVID related content on R COVID-19

R ProductsCOVID-19

ONE PROBLEM . ONE PURPOSE . ONE PLACE

Creating the world’s largest AI-driven & human-curated collection of research, news, expert recommendations and educational resources on COVID-19

COVID-19 Dashboard