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PXD066870
PXD066870 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Brainstem metabolic changes in a mouse model of Dravet Syndrome |
| Description | Dravet Syndrome (DS) is a severe genetic epileptic encephalopathy caused by mutations in the SCN1A gene that encodes the voltage-gated sodium channel (NaV1.1) subunit alpha. DS is characterized by intractable seizures, progressive developmental delay, cognitive impairment, and high mortality due to sudden unexpected death in epilepsy (SUDEP). Post-ictal apnea that precedes asystole has been observed to lead to SUDEP; however, the exact molecular underpinnings are unclear. Seizure-induced hippocampal metabolic alterations have been reported in DS mice. Whether such alterations occur in the brainstem, a master regulator of autonomic functions, thereby influencing morbidity, mortality/SUDEP, and seizure outcomes is unknown. We used Scn1aA1783V/WT DS mice and showed that there are temporal alterations in the brainstem metabolome which are distinct in comparison to the forebrain metabolome. Glycolytic, and pentose phosphate pathway intermediates were significantly elevated in the brainstem of DS mice during the period of enhanced susceptibility to mortality (post-natal day P20-30). Post P20-30, mitochondrial aconitate, and the antioxidant glutathione were significantly elevated. Single nuclei RNA sequencing (snRNA seq), and proteomic analyses revealed alterations in genes associated with neurotransmission, cellular respiration, protein translation, as well as systematic rewiring of protein kinase-mediated pathways that were specific to the brainstem. These findings suggest that there are widespread metabolic changes in the brainstem of DS mice that are associated with alterations in druggable molecular pathways. |
| HostingRepository | MassIVE |
| AnnounceDate | 2026-05-18 |
| AnnouncementXML | Submission_2026-05-18_15:25:52.335.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Martin Golkowski |
| SpeciesList | scientific name: Mus musculus; common name: house mouse; NCBI TaxID: 10090; |
| ModificationList | No PTMs are included in the dataset |
| Instrument | timsTOF Pro 2 |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2025-08-01 14:05:39 | ID requested | |
| ⏵ 1 | 2026-05-18 15:25:53 | announced |
Publication List
| Sri Hari A, Chan AM, Scholl A, Mulligan A, Camacho J, Kearns IR, Opazo GV, Cheminant J, Musci T, Goh MJ, Venosa A, Moos PJ, Golkowski M, Metcalf CS, Multiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome. Cells, 15(1):(2025) [pubmed] |
Keyword List
| submitter keyword: Dravet Syndrome, sudden unexpected death in epilepsy (SUDEP), brainstem, metabolism, DatasetType:Proteomics |
Contact List
| Cameron Metcalf | |
|---|---|
| contact affiliation | University of Utah |
| contact email | cameron.s.metcalf@utah.edu |
| lab head | |
| Martin Golkowski | |
| contact affiliation | University of Utah |
| contact email | martin.golkowski@utah.edu |
| 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/MSV000098704/ |
