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Metformin reduces RAN proteins and rescues molecular and behavioral phenotypes in SCA8 mice

GSE319230 Mus musculus (mouse) RNA-seq (gene expression) 12 samples Submitted 2026/02/24 Platform GPL30172
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: 4 × NT_Wate vs 4 × SCA8_Wate vs 4 × SCA8_MetGroups 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
Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 miceLife science alliance · 2026
Summary (written by the submitters)
Spinocerebellar ataxia type 8 (SCA8) is a member of a group of dominantly inherited, debilitating neurological diseases caused by CAG•CTG expansions for which there are no effective disease-targeting treatments. RAN translation, which was discovered in SCA8, has previously been shown to occur across CAG and CUG expansion transcripts, making treatments that work for SCA8 potentially relevant to a broader group of diseases, including SCA1, 2, 3, 6, 7, 12, Huntington’s Disease (HD), Fuch’s endothelial corneal dystrophy (FECD), and myotonic dystrophy type 1 (DM1).
Read the full summary ↓
Additionally, CUG and CAG expansion transcripts have been reported to cause RNA gain-of-function effects. In C9orf72 ALS/FTD mice, we previously showed that metformin reduced RAN protein levels and improved behavior and neurological phenotypes. Using SCA8 BAC transgenic mice as a model for CAG•CTG expansion diseases, we now show that metformin improves ambulatory performance using rotarod, DigiGait, and open-field measures. At the molecular level, metformin-treated mice showed reduced RAN protein levels and improved alternative splicing abnormalities without changing the levels of the expanded RNAs. Metformin-treated mice also showed decreased neuroinflammation, with reduced astrogliosis and fewer activated microglia. These data provide strong preclinical support for testing metformin in clinical trials for SCA8 and potentially the broader group of CAG•CTG repeat expansion disorders.
Published in
Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice
Romano LE, Tsukagoshi S, Davey-Osuch EE et al. · Life science alliance 2026 · PMID 41771688 · doi:10.26508/lsa.202503555
This dataset
Open GSE319230 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 GSE319230_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 PRJNA1422651 and SRA study SRP676483. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41771688) ↗
Study design
4 × NT_Wate vs 4 × SCA8_Wate vs 4 × SCA8_Met

Supports a between-group comparison across 12 samples.

How we read this: 3 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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