Cargando…
Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives
Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted storage systems which trigger complex pathogenic ca...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178094/ https://www.ncbi.nlm.nih.gov/pubmed/32260582 http://dx.doi.org/10.3390/ijms21072533 |
_version_ | 1783525375666552832 |
---|---|
author | Percival, Benita Claire Gibson, Miles Wilson, Philippe B. Platt, Frances M. Grootveld, Martin |
author_facet | Percival, Benita Claire Gibson, Miles Wilson, Philippe B. Platt, Frances M. Grootveld, Martin |
author_sort | Percival, Benita Claire |
collection | PubMed |
description | Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted storage systems which trigger complex pathogenic cascades with other organelles collaterally affected. This process leads to cell dysfunction and death, particularly in the central nervous system. One valuable approach to gaining insights into the global impact of lysosomal dysfunction is through metabolomics, which represents a discovery tool for investigating disease-induced modifications in the patterns of large numbers of simultaneously-analysed metabolites, which also features the identification of biomarkers Here, the scope and applications of metabolomics strategies to the investigation of sphingolipidoses is explored in order to facilitate our understanding of the biomolecular basis of these conditions. This review therefore surveys the benefits of applying ’state-of-the-art’ metabolomics strategies, both univariate and multivariate, to sphingolipidoses, particularly Niemann-Pick type C disease. Relevant limitations of these techniques are also discussed, along with the latest advances and developments. We conclude that metabolomics strategies are highly valuable, distinctive bioanalytical techniques for probing LSDs, most especially for the detection and validation of potential biomarkers. They also show much promise for monitoring disease progression and the evaluation of therapeutic strategies and targets. |
format | Online Article Text |
id | pubmed-7178094 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-71780942020-04-28 Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives Percival, Benita Claire Gibson, Miles Wilson, Philippe B. Platt, Frances M. Grootveld, Martin Int J Mol Sci Review Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted storage systems which trigger complex pathogenic cascades with other organelles collaterally affected. This process leads to cell dysfunction and death, particularly in the central nervous system. One valuable approach to gaining insights into the global impact of lysosomal dysfunction is through metabolomics, which represents a discovery tool for investigating disease-induced modifications in the patterns of large numbers of simultaneously-analysed metabolites, which also features the identification of biomarkers Here, the scope and applications of metabolomics strategies to the investigation of sphingolipidoses is explored in order to facilitate our understanding of the biomolecular basis of these conditions. This review therefore surveys the benefits of applying ’state-of-the-art’ metabolomics strategies, both univariate and multivariate, to sphingolipidoses, particularly Niemann-Pick type C disease. Relevant limitations of these techniques are also discussed, along with the latest advances and developments. We conclude that metabolomics strategies are highly valuable, distinctive bioanalytical techniques for probing LSDs, most especially for the detection and validation of potential biomarkers. They also show much promise for monitoring disease progression and the evaluation of therapeutic strategies and targets. MDPI 2020-04-05 /pmc/articles/PMC7178094/ /pubmed/32260582 http://dx.doi.org/10.3390/ijms21072533 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Percival, Benita Claire Gibson, Miles Wilson, Philippe B. Platt, Frances M. Grootveld, Martin Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives |
title | Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives |
title_full | Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives |
title_fullStr | Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives |
title_full_unstemmed | Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives |
title_short | Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives |
title_sort | metabolomic studies of lipid storage disorders, with special reference to niemann-pick type c disease: a critical review with future perspectives |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178094/ https://www.ncbi.nlm.nih.gov/pubmed/32260582 http://dx.doi.org/10.3390/ijms21072533 |
work_keys_str_mv | AT percivalbenitaclaire metabolomicstudiesoflipidstoragedisorderswithspecialreferencetoniemannpicktypecdiseaseacriticalreviewwithfutureperspectives AT gibsonmiles metabolomicstudiesoflipidstoragedisorderswithspecialreferencetoniemannpicktypecdiseaseacriticalreviewwithfutureperspectives AT wilsonphilippeb metabolomicstudiesoflipidstoragedisorderswithspecialreferencetoniemannpicktypecdiseaseacriticalreviewwithfutureperspectives AT plattfrancesm metabolomicstudiesoflipidstoragedisorderswithspecialreferencetoniemannpicktypecdiseaseacriticalreviewwithfutureperspectives AT grootveldmartin metabolomicstudiesoflipidstoragedisorderswithspecialreferencetoniemannpicktypecdiseaseacriticalreviewwithfutureperspectives |