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Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis
- Source :
- Genes, Genes, Vol 11, Iss 537, p 537 (2020)
- Publication Year :
- 2020
-
Abstract
- 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 C9ORF72, SOD1, TARDBP, and FUS) 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.
- Subjects :
- iPSC
lcsh:QH426-470
C9orf72 Protein
Amyotrophic Lateral Sclerosis
Induced Pluripotent Stem Cells
High-Throughput Nucleotide Sequencing
Review
personalized medicine
metabolomics
DNA-Binding Proteins
lcsh:Genetics
Disease Models, Animal
Superoxide Dismutase-1
Mutation
Animals
Humans
RNA-Binding Protein FUS
genetics
Precision Medicine
ALS
Cells, Cultured
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 20734425
- Volume :
- 11
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.pmid.dedup....007f51ad82aa0fd8d683b735b81671cf