PXD037130

PXD037130 is an original dataset announced via ProteomeXchange.

Title	Proteomic Screening Identifies Novel Biomarkers and Mechanisms of Synovial Joint Disease in a Canine Model of Mucopolysaccharidosis I
Description	Mucopolysaccharidosis I is a lysosomal storage disorder characterized by deficient alpha-L-iduronidase activity, leading to abnormal accumulation of glycosaminoglycans in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient quality of life. There is a critical need for improved understanding of joint disease pathophysiology in MPS I, including specific biomarkers to predict and monitor joint disease progression, and response to treatment. The objective of this study was to leverage the naturally-occurring MPS I canine model and undertake an unbiased proteomic screen to identify systemic biomarkers predictive of local joint disease in MPS I. Synovial fluid and serum samples were collected from MPS I and healthy dogs at 12 months-of-age, and protein abundance characterized using LC MS/MS. Stifle joints were evaluated postmortem using magnetic resonance imaging (MRI) and histology. Proteomics identified 40 proteins for which abundance was significantly correlated between serum and synovial fluid, including markers of inflammatory joint disease and lysosomal dysfunction. Elevated expression of three biomarker candidates, matrix metalloproteinase 19, inter-alpha-trypsin inhibitor heavy-chain 3 and alpha-1-microglobulin, was confirmed in MPS I cartilage, and serum abundance of these molecules was found to correlate with MRI and histological degenerative grades. The candidate biomarkers identified in this study have the potential to improve patient care by facilitating minimally-invasive, specific assessment of joint disease severity, progression and response to therapeutic intervention.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:41:13.332.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Hossein Fazelinia
SpeciesList	scientific name: Canis familiaris (Dog) (Canis lupus familiaris); NCBI TaxID: 9615;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2022-10-02 03:56:28	ID requested
1	2024-05-22 03:28:26	announced
⏵ 2	2024-10-22 06:41:14	announced	2024-10-22: Updated project metadata.

10.1016/j.ymgme.2023.107371;

Zhang C, Gawri R, Lau YK, Spruce LA, Fazelinia H, Jiang Z, Jo SY, Scanzello CR, Mai W, Dodge GR, Casal ML, Smith LJ, Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I. Mol Genet Metab, 138(2):107371(2023) [pubmed]

submitter keyword: Canine Model, Mucopolysaccharidosis, Synovial fluid, Serum,Synovial Joint Disease

Lachlan J. Smith, Ph.D.
contact affiliation	Lachlan J. Smith, Ph.D. Associate Professor Department of Orthopaedic Surgery Perelman School of Medicine University of Pennsylvania 371 Stemmler Hall, 3450 Hamilton Walk Philadelphia, PA, 19104 USA
contact email	lachlans@pennmedicine.upenn.edu
lab head
Hossein Fazelinia
contact affiliation	Children's Hospital of Philadelphia
contact email	fazeliniah@email.chop.edu
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD037130
     1. Label: PRIDE project
     2. Name: Proteomic Screening Identifies Novel Biomarkers and Mechanisms of Synovial Joint Disease in a Canine Model of Mucopolysaccharidosis I