PXD068434-1
PXD068434 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron sulfur cluster and supercomplex formation |
| Description | MEPAN (Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration) is an early onset movement disorder characterized by ataxia, dysarthria, and optic atrophy. Here we report the creation of a mouse model of MEPAN with patient-similar compound heterozygous mutations in the Mecr gene. The MEPAN mouse recapitulates the major hallmarks of MEPAN, including a movement disorder, optic neuropathy, defects in protein lipoylation, and reduced mitochondrial oxidative phosphorylation in the brain. MECR catalyzes the last step in mitochondrial fatty acid synthesis (mtFASII), and the mechanism by which loss of mtFASII leads to neurological disease is unknown. LC-MS/MS based proteomic analysis of Mecr mutant cerebella identified loss of subunits of complex I of oxidative phosphorylation (OXPHOS) and subunits of the iron sulfur cluster assembly (ISC) complex. Native gels revealed altered OXPHOS complex and supercomplex formation, and changes in binding of the acyl carrier protein (ACP) to mitochondrial complexes. These results demonstrate that MECR plays a key role in the acylation of ACP which is necessary for ACP-LYRM mediated supercomplex modulation and ISC biogenesis and suggest new pathways for therapeutics. |
| HostingRepository | MassIVE |
| AnnounceDate | 2025-09-16 |
| AnnouncementXML | Submission_2025-09-16_19:02:35.563.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Supported dataset by repository |
| PrimarySubmitter | Kevin Janssen |
| SpeciesList | scientific name: Mus musculus; common name: house mouse; NCBI TaxID: 10090; |
| ModificationList | Carbamidomethyl |
| Instrument | Q Exactive HF |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2025-09-16 18:53:41 | ID requested | |
| ⏵ 1 | 2025-09-16 19:02:35 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: mitochondria, cerebellum, mepan, mecr, DatasetType:Proteomics |
Contact List
| Douglas C Wallace | |
|---|---|
| contact affiliation | Children's Hospital of Philadelphia |
| contact email | wallaced@chop.edu |
| lab head | |
| Kevin Janssen | |
| contact affiliation | Children's Hospital of Philadelphia |
| contact email | kxjanssen@gmail.com |
| dataset submitter | |
Full Dataset Link List
| MassIVE dataset URI |
| Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://massive-ftp.ucsd.edu/v10/MSV000099206/ |
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