PXD058090 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | AAV-mediated transduction of the Ant1 gene restores heart function in the Ant1-/- mouse model of mitochondrial cardiomyopathy |
| Description | Primary mitochondrial disease (PMD) patients manifesting cardiomyopathy are twice as likely to die as other PMD patients. One PMD with cardiomyopathy is caused by null mutations in the heart-muscle isoform of the adenine nucleotide translocator (ANT1) gene, the severity of the cardiomyopathy being mediated by the mitochondrial DNA (mtDNA). To perfect strategies for addressing mitochondria cardiomyopathy, we generated an Ant1 null mouse and combined it with our ND6P25L mtDNA mutation to mimic the hypertrophic versus dilated cardiomyopathies observed in patients. We then transduced the neonatal Ant1-/- and Ant1-/-+ND6P25L mouse hearts with an AAV2/9-pDes-Gfp-mAnt1 cDNA vector. Restoration of just 10% Ant1 gene expression was sufficient to ameliorate the cardiomyopathies in these mice. Proteomics and single nucleus RNA sequencing (snRNA-seq) revealed the reversal of dysregulated mitochondrial metabolic genes, including PGC1α, as well as cardiac contractile and extracellular matrix proteins. Hence, a modest increase in cardiac mitochondrial energetics can have profound benefits on cardiac function and is effective in treating mitochondrial cardiomyopathy.
Samples 1-3: WT (C57BL/6J).
Samples 4-6: AAV (ANT1-/- treated with ANT1 AAV).
Samples 7-9: ANT1-/-. Biological replicates were run once each. |
| HostingRepository | PRIDE |
| AnnounceDate | 2025-10-28 |
| AnnouncementXML | Submission_2025-10-28_11:22:38.029.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Kevin A Janssen |
| SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090; |
| ModificationList | iodoacetamide derivatized residue |
| Instrument | Q Exactive HF |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2024-11-20 06:14:00 | ID requested | |
| ⏵ 1 | 2025-10-28 11:22:38 | announced | |
Publication List
| Dataset with its publication pending |
Keyword List
| submitter keyword: mitochondria, mouse, ANT1,heart |
Contact List
| Douglas Wallace |
|---|
| contact affiliation | Children's Hospital of Philadelphia |
| contact email | wallaced1@chop.edu |
| lab head | |
| Kevin A Janssen |
|---|
| contact affiliation | Children's Hospital of Philadelphia |
| contact email | kxjanssen@gmail.com |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD058090
- Label: PRIDE project
- Name: AAV-mediated transduction of the Ant1 gene restores heart function in the Ant1-/- mouse model of mitochondrial cardiomyopathy
