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Acute Arrhythmias in a Long-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Mouse Model

GSE309626 Mus musculus (mouse) RNA-seq (gene expression) 12 samples Submitted 2025/10/15 Platform GPL24247
At a glance

RNA-seq (gene expression) · mouse · 12 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
12 samples: 3 × LCHADD fem V vs 3 × LCHADD male V vs 3 × WT fem V vs 3 × WT male VGroups 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
Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mouse modelAmerican journal of physiology. Heart and circulatory physiology · 2026
Summary (written by the submitters)
Patients with LCHADD, a mitochondrial fatty acid oxidation (FAO) disorder, frequently present with cardiomyopathy and can suffer life-threatening arrhythmias and heart failure. While these remain the leading causes of death, the pathophysiology remains unknown. We used an LCHADD mouse model to examine the mechanisms of impaired cardiac function.
Read the full summary ↓
Methods: We previously determined that LCHADD mice (Hadha c.1528G>C homozygotes) recapitulate human disease and develop cardiomyopathy. We performed electrophysiological tests on LCHADD and WT mice, followed by cardiac tissue and molecular expression analysis. Results: LCHADD mice showed significantly increased frequency of atrial premature beats, premature ventricular contractions, atrial flutter, and atrial and ventricular fibrillation after b-agonist stimulation compared to WT mice. Long QRS and long QT intervals were also observed. LCHADD heart sections demonstrated increased cardiomyocyte cross-sectional area, increased lipid and collagen deposition, and decreased glycogen deposits. There was global sympathetic denervation in LCHADD hearts compared to WT. Differentially expressed gene analysis showed increased expression of glycolytic and glutathione synthesis enzymes, decreased gene expression of TCA cycle enzymes, Ca++ signaling, and cardiac muscle contraction proteins. Conclusions: LCHADD cardiomyopathy has a hypertrophic phenotype with diffuse fibrosis, accumulation of lipids, and lower glycogen storage in the absence of obesity. LCHADD cardiomyocyte metabolism suggests a shift from FAO toward glycolysis with chronic oxidative stress. Energy deficiency and lipotoxicity likely influence Ca++ signaling and cardiac contraction. Long QRS and QT intervals with global sympathetic denervation may predispose the heart to repolarization abnormalities susceptible to arrhythmias and increased risk of sudden cardiac arrest and death.
Published in
Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mouse model
Elizondo G, Scalco A, Asal A et al. · American journal of physiology. Heart and circulatory physiology 2026 · PMID 41467851 · doi:10.1152/ajpheart.00493.2025
This dataset
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.

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 GSE309626_RAW.tar (it can run to tens of gigabytes).

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.

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 PRJNA1336640 and SRA study SRP629979. Searching any of these in the dataset finder brings you back here.

Study design
3 × LCHADD fem V vs 3 × LCHADD male V vs 3 × WT fem V vs 3 × WT male V

Supports a between-group comparison across 12 samples.

How we read this: 4 replicated groups read from 12 sample titles; they account for 12 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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