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PERM1 Gene Therapy Prevents Pressure Overload-induced Heart Failure Through a Sarcomere-Mitochondria Energetic Microdomain

GSE338319 Mus musculus (mouse) RNA-seq (gene expression) 16 samples Submitted 2026/09/30 Platform GPL34290
At a glance

RNA-seq (gene expression) · mouse · 16 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
16 samples
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.
Summary (written by the submitters)
Heart failure with reduced ejection fraction (HFrEF) is characterized by impaired contractile function and mitochondrial dysfunction, yet therapies that simultaneously restore cardiac energetics and mechanical performance remain limited. Here, we demonstrate that adeno-associated virus (AAV)-mediated PERM1 gene delivery prevents pressure overload-induced HFrEF in mice.
Read the full summary ↓
AAV-PERM1 preserved mitochondrial respiration, maintained compact mitochondrial morphology and mitochondrial DNA content, and attenuated pathological hypertrophy and fibrosis. Unexpectedly, these effects occurred despite persistent suppression of oxidative phosphorylation and fatty acid oxidation transcripts, revealing a mechanism independent of transcriptional metabolic reprogramming. Instead, PERM1 localized to a mitochondria-sarcomere microdomain, whereas it associates with ribosomal proteins and a creatine kinase-troponin C complex, suppressed pathological O-GlcNAcylation, and post-transcriptionally preserved electron transport chain protein abundance. Functionally, PERM1 enhanced myofibrillar force generation. These findings identify PERM1 as a previously unrecognized organizer of a sarcomere-mitochondria energetic microdomain that preserves mitochondrial protein homeostasis and couples energy production to force generation, thereby conferring resilience against heart failure.
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 GSE338319_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 PRJNA1493251 and SRA study SRP717086. Searching any of these in the dataset finder brings you back here.

Samples in this study

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+ 16 more — browse all 16 samples with per-sample file links →

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