Novel biomarkers for lysosomal storage disorders: Metabolomic and proteomic approaches
| Autor: | Aya M. Abdelazim, Mohamed A. Elmonem |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proteomics Clinical Biochemistry Lysosomal storage disorders Disease Computational biology Biochemistry 03 medical and health sciences 0302 clinical medicine Metabolomics Disease severity Medicine Humans Dried blood business.industry Biochemistry (medical) General Medicine Mass spectrometric Organ damage Lysosomal Storage Diseases 030104 developmental biology 030220 oncology & carcinogenesis business Lysosomes Biomarkers |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 509 |
| ISSN: | 1873-3492 |
| Popis: | Lysosomal storage disorders (LSDs) are characterized by the accumulation of specific disease substrates inside the lysosomes of various cells, eventually leading to the deterioration of cellular function and multisystem organ damage. With the continuous discovery and validation of novel and advanced therapies for most LSDs, there is an urgent need to discover more versatile and clinically relevant biomarkers. The utility of these biomarkers should ideally extend beyond the screening and diagnosis of LSDs to the evaluation of disease severity and monitoring of therapy. Metabolomic and proteomic approaches provide the means to the discovery and validation of such novel biomarkers. This is achieved mainly through the application of various mass spectrometric techniques to common and easily accessible biological samples, such as plasma, urine and dried blood spots. In this review, we tried to summarize the complexity of the lysosomal disorders phenotypes, their current diagnostic and therapeutic approaches, the various techniques supporting metabolomic and proteomic studies and finally we tried to explore the newly discovered biomarkers for most LSDs and their reported clinical values. |
| Databáze: | OpenAIRE |
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