Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis
Metabolomics studies performed in patients with amyotrophic lateral sclerosis (ALS) reveal a set of distinct metabolites that can shed light on the pathological alterations taking place in each individual. Metabolites levels are influenced by disease status, and genetics play an important role both...
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doaj-d421cb55cf2744878511f0f60fb8d69c2020-11-25T03:00:55ZengMDPI AGGenes2073-44252020-05-011153753710.3390/genes11050537Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral SclerosisDébora Lanznaster0Charlotte Veyrat-Durebex1Patrick Vourc’h2Christian R. Andres3Hélène Blasco4Philippe Corcia5UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, FranceUMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, FranceUMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, FranceUMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, FranceUMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, FranceUMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, FranceMetabolomics studies performed in patients with amyotrophic lateral sclerosis (ALS) reveal a set of distinct metabolites that can shed light on the pathological alterations taking place in each individual. Metabolites levels are influenced by disease status, and genetics play an important role both in familial and sporadic ALS cases. Metabolomics analysis helps to unravel the differential impact of the most common ALS-linked genetic mutations (as <i>C9ORF72</i>, <i>SOD1</i>, <i>TARDBP,</i> and <i>FUS</i>) in specific signaling pathways. Further, studies performed in genetic models of ALS reinforce the role of TDP-43 pathology in the vast majority of ALS cases. Studies performed in differentiated cells from ALS-iPSC (induced Pluripotent Stem Cells) reveal alterations in the cell metabolism that are also found in ALS models and ultimately in ALS patients. The development of metabolomics approaches in iPSC derived from ALS patients allow addressing and ultimately understanding the pathological mechanisms taking place in any patient. Lately, the creation of a “patient in a dish” will help to identify patients that may benefit from specific treatments and allow the implementation of personalized medicine.https://www.mdpi.com/2073-4425/11/5/537ALSmetabolomicsgeneticsiPSCpersonalized medicine |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Débora Lanznaster Charlotte Veyrat-Durebex Patrick Vourc’h Christian R. Andres Hélène Blasco Philippe Corcia |
spellingShingle |
Débora Lanznaster Charlotte Veyrat-Durebex Patrick Vourc’h Christian R. Andres Hélène Blasco Philippe Corcia Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis Genes ALS metabolomics genetics iPSC personalized medicine |
author_facet |
Débora Lanznaster Charlotte Veyrat-Durebex Patrick Vourc’h Christian R. Andres Hélène Blasco Philippe Corcia |
author_sort |
Débora Lanznaster |
title |
Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis |
title_short |
Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis |
title_full |
Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis |
title_fullStr |
Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis |
title_full_unstemmed |
Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis |
title_sort |
metabolomics: a tool to understand the impact of genetic mutations in amyotrophic lateral sclerosis |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2020-05-01 |
description |
Metabolomics studies performed in patients with amyotrophic lateral sclerosis (ALS) reveal a set of distinct metabolites that can shed light on the pathological alterations taking place in each individual. Metabolites levels are influenced by disease status, and genetics play an important role both in familial and sporadic ALS cases. Metabolomics analysis helps to unravel the differential impact of the most common ALS-linked genetic mutations (as <i>C9ORF72</i>, <i>SOD1</i>, <i>TARDBP,</i> and <i>FUS</i>) in specific signaling pathways. Further, studies performed in genetic models of ALS reinforce the role of TDP-43 pathology in the vast majority of ALS cases. Studies performed in differentiated cells from ALS-iPSC (induced Pluripotent Stem Cells) reveal alterations in the cell metabolism that are also found in ALS models and ultimately in ALS patients. The development of metabolomics approaches in iPSC derived from ALS patients allow addressing and ultimately understanding the pathological mechanisms taking place in any patient. Lately, the creation of a “patient in a dish” will help to identify patients that may benefit from specific treatments and allow the implementation of personalized medicine. |
topic |
ALS metabolomics genetics iPSC personalized medicine |
url |
https://www.mdpi.com/2073-4425/11/5/537 |
work_keys_str_mv |
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