PXD054253-1

PXD054253 is an original dataset announced via ProteomeXchange.

Title	Monitoring Biomarker Study in Becker Muscular Dystrophy using Data Independent Acquisition LC-MS/MS
Description	Becker muscular dystrophy (BMD) is a rare and heterogenous form of dystrophinopathy caused by reduced expression of altered dystrophin protein. Gene therapies and exon-skipping therapies for the more severe form of dystrophinopathy, Duchenne muscular dystrophy (DMD), assume that disease progression can be slowed by promoting the expression of truncated dystrophin comparable to what occurs in BMD patients. Several studies have identified potential progression biomarkers for DMD and hypothesised in their usefulness in monitoring pharmacodynamic response in therapeutic clinical trials aiming to restore gene expression. However, knowledge of progression changes of blood proteome in BMD is lacking. In this study, we aimed at exploring differences in proteomic changes between DMD and BMD as well as explore what proteins relate to functional performance in BMD patients in a prospective longitudinal 3-year study. Serum from 34 BMD patients and 19 DMD patients was analysed using Data Independent Acquisition Tandem Mass Spectrometry (DIA-MS). Linear mixed effects models identified 20 proteins with altered longitudinal signatures between DMD and BMD, among these CKM, PKM, FGG, LDHB and A2M. Furthermore, several proteins related to innate immune response were found related to functional performance in BMD patients and A2M displayed an altered time-dependent decline in relation to dystrophin expression in the tibialis anterior muscle.
HostingRepository	PanoramaPublic
AnnounceDate	2025-10-31
AnnouncementXML	Submission_2025-10-31_15:45:43.653.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	supported by repository but incomplete data and/or metadata
PrimarySubmitter	David Kotol
SpeciesList	scientific name: Homo sapiens; NCBI TaxID: 9606;
ModificationList	Carbamidomethyl; Label:13C(6)15N(2); Label:13C(6)15N(4)
Instrument	Q Exactive HF; TSQ Altis

Revision	Datetime	Status	ChangeLog Entry
0	2024-07-25 19:07:26	ID requested
⏵ 1	2025-10-31 15:45:44	announced

Johansson C, Schrama EJ, Kotol D, Hober A, Koeks Z, van de Velde NM, Verschuuren JJGM, Niks EH, Edfors F, Spitali P, Al-Khalili Szigyarto C, Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS. Skelet Muscle, 15(1):15(2025) [pubmed]

submitter keyword: Becker muscular dystrophy, Duchenne muscular dystrophy, dystrophinopathy, rare disease

Fredrik Edfors
contact affiliation	KTH, Science for Life Laboratory, Solna, Sweden
contact email	fredrik.edfors@scilifelab.se
lab head
David Kotol
contact affiliation	KTH, Science for Life Laboratory, Solna, Sweden
contact email	david.kotol@scilifelab.se
dataset submitter

Panorama Public dataset URI