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Analysis of Muscle and Blood RNA Samples from Patients with Myotonic Dystrophy Type 1 Reveals the Presence of New Mis-Splicing Biomarkers of Disease Severity

GSE292819 Homo sapiens (human) RNA-seq (gene expression) 66 samples Submitted 2025/11/14 Platform GPL18573
At a glance

RNA-seq (gene expression) · human · 66 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
Homo sapiens (human)
Samples
66 samples: 8 conditions, mostly in duplicateGroups 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
Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severityJournal of medical genetics · 2026
Summary (written by the submitters)
To investigate biomarkers of disease severity in patients with myotonic dystrophy type 1 (DM1), we conducted RNA sequencing in blood, skin, and skeletal muscle (tibialis anterior, TA) from the same DM1 patients. This analysis revealed 937, 384, and 1216 mis-splicing events in muscle, blood, and skin, respectively. We determined the percent splice-in (ψ) values for 52 exons in muscle and 10 exons in blood, which correlated with repeat expansion sizes using the ePAL method; no such correlations were observed in skin.
Read the full summary ↓
Notably, ψ values for nine exons in blood correlated with total splicing dysregulation in muscle (FDR < 0.05), suggesting their potential as biomarkers for DM1 disease severity. This study marks the first identification of: 1) splicing dysregulation in blood and skin, confirming tissue-specific splicing dysregulation, and 2) blood-based DM1 mis-splicing biomarkers of disease severity. For the first time, we present blood mis-splicing biomarkers that serve as a proxy for muscle splicing dysregulation, meeting the criteria for an ideal severity biomarker by being minimally invasive and capable of monitoring disease progression.
Published in
Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity
Palma-Jiménez M, Ramirez-Carvajal L, Corrales E et al. · Journal of medical genetics 2026 · PMID 41161721 · doi:10.1136/jmg-2025-110919
This dataset
Open GSE292819 in finder → Find more human 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 GSE292819_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 PRJNA1241304 and SRA study SRP572742. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41161721) ↗
Study design
8 conditions, mostly in duplicate
Blood, DM1 patient, classic ×20 Muscle, DM1 patient, classic ×19 Skin, DM1 patient, classic ×10 Muscle, DM1 patient, Mild ×4 Muscle, DM1 patient, pediatric ×3 Blood, DM1 patient, congenital ×2 Muscle, DM1 patient, congenital ×2 Blood, DM1 patient, pediatric ×2 +4 more

Supports a between-group comparison across 62 samples.

How we read this: 8 replicated groups read from 66 sample titles; they account for 62 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

+ 26 more — browse all 66 samples with per-sample file links →

Datasets on a similar topic

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