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MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model

GSE283998 Mus musculus (mouse) RNA-seq (gene expression) 36 samples Submitted 2025/03/30 Platform GPL24247
At a glance

RNA-seq (gene expression) · mouse · 36 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Mus musculus (mouse)
Samples
36 samples: 12 conditions, mostly in triplicateGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse modelThe Journal of clinical investigation · 2025
Summary (written by the submitters)
Myotonic Dystrophy Type 1 (DM1) is an autosomal dominant disease caused by a CTG repeat expansion in the DMPK gene. The expanded CUG repeat RNA (CUGexp RNA) transcribed from the mutant allele sequesters the muscleblind-like (MBNL) family of RNA-binding proteins, causing their loss of function and disrupting regulated pre-mRNA processing.
Read the full summary ↓
We used a DM1 heart mouse model that inducibly expresses CUGexp RNA to test the contribution of MBNL loss to DM1 cardiac abnormalities and explore MBNL restoration as a potential therapy. AAV9-mediated overexpression of MBNL1 and/or MBNL2 significantly rescued DM1 cardiac phenotypes including conduction delays, contractile dysfunction, hypertrophy, and mis-regulated alternative splicing and gene expression. While robust, rescue was partial compared to reduced CUGexp RNA and plateaued with increased exogenous MBNL expression. These findings demonstrate that MBNL loss is a major contributor to DM1 cardiac manifestations, and suggest that additional mechanisms play a role, highlighting the complex nature of DM1 pathogenesis.
Published in
MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model
Hu RC, Zhang Y, Nitschke L et al. · The Journal of clinical investigation 2025 · PMID 39932794 · doi:10.1172/JCI186416
This dataset
Open GSE283998 in finder → Find more mouse RNA-seq datasets →
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓
2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE283998_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1196797 and SRA study SRP550749. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 39932794) ↗
Study design
12 conditions, mostly in triplicate
Ventricle, CUG960 on dox, biol ×3 Ventricle, CUG960 on dox with 3XFLAG-MBNL1, b… ×3 Ventricle, CUG960 on dox with 3XMYC-MBNL2, bi… ×3 Ventricle, CUG960 on dox with 3XFLAG-MBNL1 an… ×3 Ventricle, CUG960 on/off dox, biol ×3 Ventricle, CUG960 no dox, biol ×3 Atria, CUG960 on dox, biol ×3 Atria, CUG960 on dox with 3XFLAG-MBNL1, biol ×3 +4 more

Supports a between-group comparison across 36 samples.

How we read this: 12 replicated groups read from 36 sample titles; they account for 36 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
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