Issue 4, 2022

Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders

Abstract

The major function of the lysosome is to degrade unwanted materials such as lipids, proteins, and nucleic acids; therefore, deficits of the lysosomal system can result in improper degradation and trafficking of these biomolecules. Diseases associated with lysosomal failure can be lethal and are termed lysosomal storage disorders (LSDs), which affect 1 in 5000 live births collectively. LSDs are inherited metabolic diseases caused by mutations in single lysosomal and non-lysosomal proteins and resulting in the subsequent accumulation of macromolecules within. Most LSD patients present with neurodegenerative clinical symptoms, as well as damage in other organs. The discovery of new biomarkers is necessary to understand and monitor these diseases and to track therapeutic progress. Over the past ten years, mass spectrometry (MS)-based proteomics has flourished in the biomarker studies in many diseases, including neurodegenerative, and more specifically, LSDs. In this review, biomarkers of disease pathophysiology and monitoring of LSDs revealed by MS-based proteomics are discussed, including examples from Niemann–Pick disease type C, Fabry disease, neuronal ceroid-lipofuscinoses, mucopolysaccharidosis, Krabbe disease, mucolipidosis, and Gaucher disease.

Graphical abstract: Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders

Article information

Article type
Review Article
Submitted
03 1月 2022
Accepted
15 3月 2022
First published
16 3月 2022

Mol. Omics, 2022,18, 256-278

Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders

W. Li and S. M. Cologna, Mol. Omics, 2022, 18, 256 DOI: 10.1039/D2MO00004K

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