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2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma
Pathogenic variants in ALS2 have been detected mostly in juvenile cases of amyotrophic lateral sclerosis (ALS), affecting mainly children and teenagers. Patients with ALS2 mutations demonstrate early onset cortical involvement in ALS. Currently, there are no effective treatment options. There is an...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878019/ https://www.ncbi.nlm.nih.gov/pubmed/35208248 http://dx.doi.org/10.3390/metabo12020174 |
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author | Gautam, Mukesh Carratore, Renata Del Helmold, Benjamin Tessa, Alessandra Gozutok, Oge Chandel, Navdeep Idrisoglu, Halil Bongioanni, Paolo Battini, Roberta Ozdinler, P.Hande |
author_facet | Gautam, Mukesh Carratore, Renata Del Helmold, Benjamin Tessa, Alessandra Gozutok, Oge Chandel, Navdeep Idrisoglu, Halil Bongioanni, Paolo Battini, Roberta Ozdinler, P.Hande |
author_sort | Gautam, Mukesh |
collection | PubMed |
description | Pathogenic variants in ALS2 have been detected mostly in juvenile cases of amyotrophic lateral sclerosis (ALS), affecting mainly children and teenagers. Patients with ALS2 mutations demonstrate early onset cortical involvement in ALS. Currently, there are no effective treatment options. There is an immense need to reveal the underlying causes of the disease and to identify potential biomarkers. To shed light onto the metabolomic events that are perturbed with respect to ALS2 mutations, we investigated the metabolites present in the serum and plasma of a three-year-old female patient (AO) harboring pathogenic variants in ALS2, together with her relatives, healthy male and female controls, as well as another two-year-old patient DH, who had mutations at different locations and domains of ALS2. Serum and plasma samples were analyzed with a quantitative metabolomic approach to reveal the identity of metabolites present in serum and plasma. This study not only shed light onto the perturbed cellular pathways, but also began to reveal the presence of a distinct set of key metabolites that are selectively present or absent with respect to ALS2 mutations, laying the foundation for utilizing metabolites as potential biomarkers for a subset of ALS. |
format | Online Article Text |
id | pubmed-8878019 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-88780192022-02-26 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma Gautam, Mukesh Carratore, Renata Del Helmold, Benjamin Tessa, Alessandra Gozutok, Oge Chandel, Navdeep Idrisoglu, Halil Bongioanni, Paolo Battini, Roberta Ozdinler, P.Hande Metabolites Article Pathogenic variants in ALS2 have been detected mostly in juvenile cases of amyotrophic lateral sclerosis (ALS), affecting mainly children and teenagers. Patients with ALS2 mutations demonstrate early onset cortical involvement in ALS. Currently, there are no effective treatment options. There is an immense need to reveal the underlying causes of the disease and to identify potential biomarkers. To shed light onto the metabolomic events that are perturbed with respect to ALS2 mutations, we investigated the metabolites present in the serum and plasma of a three-year-old female patient (AO) harboring pathogenic variants in ALS2, together with her relatives, healthy male and female controls, as well as another two-year-old patient DH, who had mutations at different locations and domains of ALS2. Serum and plasma samples were analyzed with a quantitative metabolomic approach to reveal the identity of metabolites present in serum and plasma. This study not only shed light onto the perturbed cellular pathways, but also began to reveal the presence of a distinct set of key metabolites that are selectively present or absent with respect to ALS2 mutations, laying the foundation for utilizing metabolites as potential biomarkers for a subset of ALS. MDPI 2022-02-12 /pmc/articles/PMC8878019/ /pubmed/35208248 http://dx.doi.org/10.3390/metabo12020174 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/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 (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Gautam, Mukesh Carratore, Renata Del Helmold, Benjamin Tessa, Alessandra Gozutok, Oge Chandel, Navdeep Idrisoglu, Halil Bongioanni, Paolo Battini, Roberta Ozdinler, P.Hande 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma |
title | 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma |
title_full | 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma |
title_fullStr | 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma |
title_full_unstemmed | 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma |
title_short | 2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma |
title_sort | 2-year-old and 3-year-old italian als patients with novel als2 mutations: identification of key metabolites in their serum and plasma |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878019/ https://www.ncbi.nlm.nih.gov/pubmed/35208248 http://dx.doi.org/10.3390/metabo12020174 |
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