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Proteomics

Proteomics

A proteome is the entire set of proteins that a cell type produces. We can study proteomes using the knowledge of genomes because genes code for mRNAs, and the mRNAs encode proteins. Although mRNA analysis is a step in the right direction, not all mRNAs are translated into proteins.
Proteomics is the study of proteomes' function. It involves the large-scale systematic study of the proteome to denote the protein complement expressed by a genome. Scientist Mark Wilkins coined the term...

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Mapping Dysfunctional Protein-Protein Interactions in Disease

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A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.

Abdellah Tebani¹, Wladimir Mauhin², Lenaig Abily-Donval^3,4

¹Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.

Journal of Clinical Medicine

|May 7, 2020

Summary

This study identifies four novel protein biomarkers, including FGF2 and IL-7, for improved Fabry disease (FD) diagnosis. These proteins offer new insights beyond current LysoGb3 monitoring, aiding in patient stratification.

Keywords:

Fabry disease Inborn errors of metabolism lysosomal storage diseases machine learning proteomics systems biology

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Area of Science:

Proteomics
Lysosomal Diseases
Biomarker Discovery

Background:

Fabry disease (FD) is a progressive X-linked lysosomal disorder impairing glycosphingolipid metabolism.
Current diagnostic and monitoring biomarker, plasmatic globotriaosylsphingosine (LysoGb3), shows variable elevation in mild forms and female patients.
Need for alternative biomarkers to improve FD diagnosis and management.

Purpose of the Study:

To explore disease-related biological patterns using a targeted proteomic approach.
To identify novel protein biomarkers for Fabry disease diagnosis and monitoring.
To assess the utility of identified proteins in stratifying Fabry patients.

Main Methods:

Targeted proteomic analysis of 40 proteins involved in inflammation and angiogenesis.
Plasma samples from 69 French Fabry cohort patients and 83 healthy controls were analyzed.
Inclusion of other lysosomal disease samples (Gaucher, Pompe, Niemann Pick C) for predictive performance assessment.

Main Results:

Four discriminant proteins identified: FGF2, VEGFA, VEGFC (angiogenesis), and IL-7 (cytokine).
Significant elevation of FGF2 and IL-7 in FD patients compared to other lysosomal diseases.
IL-7 correlated with residual enzyme activity in non-classical FD phenotypes, suggesting orthogonal diagnostic information.

Conclusions:

Proteomics approaches hold significant potential for exploring Fabry disease.
Identified proteins (FGF2, IL-7) may enhance FD diagnosis and therapeutic monitoring.
These biomarkers could aid in stratifying Fabry patients, offering complementary information to LysoGb3.