← BioTransfer GEO Dataset Finder
GEO series

Global Transcriptomic Shifts in Mitochondrial DNA-Depleted Neuronal Cells Reveal Alzheimer's Disease-Related Pathway Changes

GSE309664 Homo sapiens (human) RNA-seq (gene expression) 40 samples Submitted 2025/12/01 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 40 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
40 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.
Paper
MtDNA-depleted neuronal cell transcriptomes reveal Alzheimer's disease-related changesAlzheimer's & dementia : the journal of the Alzheimer's Association · 2025
Summary (written by the submitters)
Background: Mitochondrial dysfunction, a prominent feature of Alzheimer’s disease (AD), could represent a cause or consequence of the disease. Objective: We determined the extent to which mitochondrial dysfunction due to mitochondrial DNA (mtDNA) depletion induces transcription changes that link to AD phenomena. Methods: We performed a transcriptomic survey of human neuronal SH SY5Y and NTERA 2/NT2 mtDNA-depleted (ρ0) and intact (ρ+) cell lines.
Read the full summary ↓
Differentially expressed genes (DEGs) between SH-SY5Y or NT2 ρ0 and ρ+ cells were identified using edgeR, and we used the Equivalent Change Index (ECI) approach to quantify concordant DEG behavior across the cell lines. Gene set enrichment and over representation analysis (GSEA; ORA) were used to determine impact on the KEGG Alzheimer’s and other neurodegenerative disease pathways, ascertain pathway and term enrichment in the Reactome and Gene Ontology databases, and generate activation z-scores in the Ingenuity Pathway Analysis (IPA) database. Results: Relative to their ρ+ comparators, ρ0 lines differentially expressed >75% of their genes, and >20% more than doubled or halved expression. The KEGG Alzheimer’s pathway was significantly enriched, and ECI-identified genes ranked the Alzheimer’s, Parkinson’s, ALS, and Huntington’s KEGG pathways among the most enriched gene sets. There was broad enrichment of pathways and terms relating to AD phenomena, which reflected lipid, insulin signaling, inflammation/immune response, synapse, endosome/endocytosis, RNA, and proteostasis biology. Conclusion: In neuronal cell lines, mitochondrial dysfunction due to mtDNA depletion alters gene expression in ways that recapitulate or predictably promote AD molecular phenomena.
Published in
MtDNA-depleted neuronal cell transcriptomes reveal Alzheimer's disease-related changes
Menta BW, Schueddig E, Ranjan A et al. · Alzheimer's & dementia : the journal of the Alzheimer's Association 2025 · PMID 41292426 · doi:10.1002/alz.70929
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 GSE309664_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 PRJNA1336707 and SRA study SRP630004. Searching any of these in the dataset finder brings you back here.

Samples in this study

The sample list for this study is not cached yet. Press Load samples and it will be fetched from NCBI.

+ 40 more — browse all 40 samples with per-sample file links →

Datasets on a similar topic

Search all human RNA-seq datasets in GEO →

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.