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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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Author Spotlight: Advancing the Analysis of Plasma Extracellular Vesicle Proteome for Cardiovascular Biomarker Studies

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Plasma Proteomic Analysis in Morquio A Disease.

José V Álvarez^1,2,3, Susana B Bravo⁴, María Pilar Chantada-Vázquez⁴

¹Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.

International Journal of Molecular Sciences

|July 2, 2021

Summary

This study identifies four potential protein biomarkers—fetuin-A, vitronectin, alpha-1-antitrypsin, and clusterin—for Mucopolysaccharidosis type IVA (MPS IVA). These biomarkers may help monitor disease progression and treatment efficacy in MPS IVA patients.

Keywords:

biomarkers enzyme replacement therapy lysosomal disorders proteomics

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Area of Science:

Biochemistry
Genetics
Medical Research

Background:

Mucopolysaccharidosis type IVA (MPS IVA) is a genetic lysosomal disorder.
It leads to skeletal dysplasia due to the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate.
Current enzyme replacement therapy (ERT) shows limited efficacy in bone lesion recovery and growth.

Purpose of the Study:

To evaluate existing biomarkers for MPS IVA.
To discover novel protein biomarkers for MPS IVA.
To assess potential biomarkers for monitoring disease and treatment response.

Main Methods:

Proteomics analysis of plasma samples from healthy controls and MPS IVA patients (untreated and ERT-treated).
Qualitative and quantitative proteomics approaches were employed.
Identification and quantification of 215 proteins comparing different study groups.

Main Results:

Four potential protein biomarkers were identified: fetuin-A, vitronectin, alpha-1-antitrypsin, and clusterin.
These proteins are implicated in bone and cartilage metabolism.
Dysregulated protein levels were observed in MPS IVA patients compared to controls.

Conclusions:

Fetuin-A, vitronectin, alpha-1-antitrypsin, and clusterin show promise as novel biomarkers for MPS IVA.
Further validation using cartilage and bone samples is necessary.
These biomarkers could aid in assessing disease status and therapeutic outcomes.