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...

Full description

Bibliographic Details
Main Authors: Débora Lanznaster, Charlotte Veyrat-Durebex, Patrick Vourc’h, Christian R. Andres, Hélène Blasco, Philippe Corcia
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Genes
Subjects:
ALS
Online Access:https://www.mdpi.com/2073-4425/11/5/537
id doaj-d421cb55cf2744878511f0f60fb8d69c
record_format Article
spelling 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 AT deboralanznaster metabolomicsatooltounderstandtheimpactofgeneticmutationsinamyotrophiclateralsclerosis
AT charlotteveyratdurebex metabolomicsatooltounderstandtheimpactofgeneticmutationsinamyotrophiclateralsclerosis
AT patrickvourch metabolomicsatooltounderstandtheimpactofgeneticmutationsinamyotrophiclateralsclerosis
AT christianrandres metabolomicsatooltounderstandtheimpactofgeneticmutationsinamyotrophiclateralsclerosis
AT heleneblasco metabolomicsatooltounderstandtheimpactofgeneticmutationsinamyotrophiclateralsclerosis
AT philippecorcia metabolomicsatooltounderstandtheimpactofgeneticmutationsinamyotrophiclateralsclerosis
_version_ 1724696065004797952