Dataset Information

Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers

ABSTRACT: Pathogenic bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix were recently linked to the manifestation of a neuromuscular disorder with manifestation in child- or adulthood. Myopathological and neurophysiological findings in patients are indicative of combined neurogenic and myopathic pathology classified as neuromyopathy presenting with muscle weakness (predominantly of the lower limbs) as a key clinical feature. Given that pathophysiological processes are still incompletely understood and biomarkers for this disease are still missing, we aimed to identify blood biomarkers of pathophysiological relevance. To this end, white blood cells (WBC) and plasma derived from six patients from two unrelated families were investigated by mass spectrometry. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further confirmed by immunostaining studies on muscle biopsies derived from two VWA1-patients.

INSTRUMENT(S): Orbitrap Fusion Lumos, Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood Plasma, Leukocyte

SUBMITTER: Andreas Hentschel

LAB HEAD: Andreas Hentschel

PROVIDER: PXD040226 | Pride | 2024-05-24

REPOSITORIES: Pride

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Dataset's files

Source:

			Action	DRS
	20211201_110950_NME_GPS_WBF_VWA1_all.sne	Other
	20211201_111243_NME_GPS_WBF_VWA1_all_Report.xls	Xls
	20220906_111443_NME_Plasma_VWA1_6indexpatient_vs_Controls_Report.csv	Csv
	20220906_111920_NME_Plasma_VWA1_6indexpatient_vs_Controls.sne	Other
	Lumos11744_36-21_VWA1_Ctrl.raw	Raw

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Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.

Athamneh Mohammed M Daya Nassam N Hentschel Andreas A Gangfuss Andrea A Ruck Tobias T Marina Adela Della AD Schara-Schmidt Ulrike U Sickmann Albert A Güttsches Anne-Katrin AK Deschauer Marcus M Preusse Corinna C Vorgerd Matthias M Roos Andreas A

Journal of cellular and molecular medicine 20240401 8

Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) an ...[more]

PMID: 38652110

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