PXD077710-1

PXD077710 is an original dataset announced via ProteomeXchange.

Title	Omega-3 fatty acid supplementation improves skeletal muscle mitochondrial function in a model of Barth syndrome
Description	The composition of mitochondrial membrane lipids is crucial to cellular respiration, as seen in Barth syndrome (BTHS), a rare disease affecting skeletal muscle, heart, and neutrophils. In BTHS, mutations in the tafazzin (TAZ) gene reduce remodeling of the mitochondrial phospholipid, cardiolipin, resulting in mitochondrial dysfunction in skeletal muscle and heart. Here, we investigate the effects of altering polyunsaturated fatty acid content in cardiolipin using preclinical models of BTHS. In vitro, the lack of TAZ did not impair omega-3 fatty acid incorporation into cardiolipin and led to higher turnover of these acyl chains. To examine this in a functional model, we generated a muscle-specific knockout mouse of TAZ (TAZ MKO), which recapitulated the human phenotype in skeletal muscle. Supplementing the diet of TAZ MKO with fish-oil derived omega-3 fatty acids prevented lean mass loss, improved mitochondrial respiration, altered mitochondrial structure and revealed moderate improvements in the stress response. Surprisingly, no diet-induced changes to cardiolipin species were observed in the TAZ MKO, but other phospholipids were altered by both genotype and diet, revealing complex regulation and potential compensation. Overall, this work provides evidence that omega-3 fatty acid supplementation is beneficial in muscle lacking TAZ to improve quality of life when added to current treatments in BTHS.
HostingRepository	PRIDE
AnnounceDate	2026-05-28
AnnouncementXML	Submission_2026-05-28_11:24:16.019.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Ivan Bradić
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Astral

Revision	Datetime	Status	ChangeLog Entry
0	2026-04-27 23:58:48	ID requested
⏵ 1	2026-05-28 11:24:16	announced

Dataset with its publication pending

submitter keyword: Barth syndrome, Fish oil diet, Tafazzin

Trisha J. Grevengoed
contact affiliation	Department of Biomedical Sciences, University of Copenhagen, Denmark
contact email	grevengoed@sund.ku.dk
lab head
Ivan Bradić
contact affiliation	University of Southern Denmark
contact email	ibradic95@gmail.com
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD077710
     1. Label: PRIDE project
     2. Name: Omega-3 fatty acid supplementation improves skeletal muscle mitochondrial function in a model of Barth syndrome