Application of proteomics and metabolomics to study inherited kidney disorders : from big data to precision medicine
Copyright by Società Italiana di Nefrologia SIN, Rome, Italy..
The recent application of proteomics and metabolomics to clinical medicine has demonstrated their potential role in complementing genomics for a better understanding of diseases' patho-physiology. These technologies offer the clear opportunity to identify risk factors, disease-specific or stage-specific biomarkers and to predict therapeutic response. This article is an overview of the recent insights obtained by metabolomic and proteomic studies in inherited kidney disorders. Proteomics studies have allowed the definition of a detailed picture of protein composition, post-translational modifications and interactions in kidney-derived samples, improving our understanding of renal physiology, especially of tubular transport and primary cilium-related functions. Studies on patients' urine samples and experimental models of inherited kidney diseases have provided clues suggesting novel potential pathological mechanisms and biomarkers of disease, for example in polycystic kidney disease. Metabolomic-based studies have been recently applied to assess biological system disturbances caused by specific genetic mutations resulting in inherited kidney disorders. These studies have been mainly carried out on mouse and rat models of cystic and metabolic disorders (such as Fabry disease), and on patients' urine samples. They have provided a significant contribution in understanding disease pathophysiology, promoting the discovery of aberrant biochemical pathways and contributing to the development of targeted therapies.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
|---|---|
| Enthalten in: |
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 37(2020), 6 vom: 07. Dez. |
| Sprache: |
Italienisch |
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| Beteiligte Personen: |
Cervesato, Angela [VerfasserIn] |
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| Themen: |
Biomarkers |
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| Anmerkungen: |
Date Completed 05.10.2021 Date Revised 05.10.2021 published: Electronic Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM318612011 |
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| 520 | |a The recent application of proteomics and metabolomics to clinical medicine has demonstrated their potential role in complementing genomics for a better understanding of diseases' patho-physiology. These technologies offer the clear opportunity to identify risk factors, disease-specific or stage-specific biomarkers and to predict therapeutic response. This article is an overview of the recent insights obtained by metabolomic and proteomic studies in inherited kidney disorders. Proteomics studies have allowed the definition of a detailed picture of protein composition, post-translational modifications and interactions in kidney-derived samples, improving our understanding of renal physiology, especially of tubular transport and primary cilium-related functions. Studies on patients' urine samples and experimental models of inherited kidney diseases have provided clues suggesting novel potential pathological mechanisms and biomarkers of disease, for example in polycystic kidney disease. Metabolomic-based studies have been recently applied to assess biological system disturbances caused by specific genetic mutations resulting in inherited kidney disorders. These studies have been mainly carried out on mouse and rat models of cystic and metabolic disorders (such as Fabry disease), and on patients' urine samples. They have provided a significant contribution in understanding disease pathophysiology, promoting the discovery of aberrant biochemical pathways and contributing to the development of targeted therapies | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a ciliopathies | |
| 650 | 4 | |a inherited kidney disorders | |
| 650 | 4 | |a metabolomics | |
| 650 | 4 | |a proteomics | |
| 650 | 4 | |a tubulopathies | |
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| 700 | 1 | |a Raucci, Raffaele |e verfasserin |4 aut | |
| 700 | 1 | |a Buononato, Dario |e verfasserin |4 aut | |
| 700 | 1 | |a Marchese, Emanuela |e verfasserin |4 aut | |
| 700 | 1 | |a Capolongo, Giovanna |e verfasserin |4 aut | |
| 700 | 1 | |a Perna, Alessandra |e verfasserin |4 aut | |
| 700 | 1 | |a Capasso, Giovambattista |e verfasserin |4 aut | |
| 700 | 1 | |a Zacchia, Miriam |e verfasserin |4 aut | |
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