Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis / genetics Animals C9orf72 Protein / genetics Cells, Cultured DNA-Binding Proteins / genetics Disease Models, Animal Genome-Wide Association Study High-Throughput Nucleotide Sequencing Humans Induced Pluripotent Stem Cells / metabolism Metabolomics Mutation Precision Medicine RNA-Binding Protein FUS / genetics Superoxide Dismutase-1 / genetics
ALS genetics iPSC metabolomics personalized medicine

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
11 05 2020
Historique:
received: 31 03 2020
revised: 27 04 2020
accepted: 27 04 2020
entrez: 15 5 2020
pubmed: 15 5 2020
medline: 16 3 2021
Statut: epublish

Résumé

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

Identifiants

DOI: 10.3390/genes11050537 PMID: 32403313 PMC: PMC7288444
pubmed: 32403313
pii: genes11050537
doi: 10.3390/genes11050537
pmc: PMC7288444
pii:
doi:

Substances chimiques

C9orf72 Protein 0
C9orf72 protein, human 0
DNA-Binding Proteins 0
FUS protein, human 0
RNA-Binding Protein FUS 0
SOD1 protein, human 0
TARDBP protein, human 0
Superoxide Dismutase-1 EC 1.15.1.1

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Références

Science. 2014 Sep 5;345(6201):1192-1194
pubmed: 25103406
Neurology. 2019 Apr 30;92(18):e2089-e2100
pubmed: 30926684
OMICS. 2016 Nov;20(11):645-661
pubmed: 27828769
Prog Neuropsychopharmacol Biol Psychiatry. 2020 Mar 8;97:109771
pubmed: 31669200
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Nature. 2011 Aug 31;477(7362):54-60
pubmed: 21886157
Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):451-453
pubmed: 28288521
Anal Chem. 2000 Feb 15;72(4):652-7
pubmed: 10701247
Mediators Inflamm. 2017;2017:7821672
pubmed: 29081604
J Biol Chem. 1987 Sep 5;262(25):12332-6
pubmed: 3040738
Elife. 2019 Jun 10;8:
pubmed: 31180318
Neuron. 2014 Dec 17;84(6):1213-25
pubmed: 25521377
Cell Syst. 2018 Jul 25;7(1):49-62.e8
pubmed: 29960885
Nat Genet. 2014 Jun;46(6):543-550
pubmed: 24816252
ACS Chem Neurosci. 2018 Jan 17;9(1):40-50
pubmed: 28982006
Science. 2009 Feb 27;323(5918):1208-1211
pubmed: 19251628
Stem Cell Res Ther. 2018 Nov 15;9(1):315
pubmed: 30442180
J Chromatogr A. 2018 Sep 21;1568:91-100
pubmed: 30007793
Front Neurosci. 2019 Dec 10;13:1276
pubmed: 31920474
Neurobiol Aging. 2009 Aug;30(8):1272-5
pubmed: 19450904
Methods Mol Biol. 2020;2064:1-8
pubmed: 31565762
Front Mol Neurosci. 2018 Jan 04;10:433
pubmed: 29354030
J Neurol Sci. 2017 Sep 15;380:124-127
pubmed: 28870551
Glia. 2017 Apr;65(4):592-605
pubmed: 28139855
Biochem Biophys Res Commun. 2006 Dec 22;351(3):602-11
pubmed: 17084815
Parkinsonism Relat Disord. 2018 Oct;55:50-54
pubmed: 29779681
Neuron. 2015 Dec 2;88(5):902-909
pubmed: 26637797
Genes Dev. 2018 Nov 1;32(21-22):1380-1397
pubmed: 30366907
Brain. 2019 Dec 1;142(12):3771-3790
pubmed: 31647549
Front Neurol. 2019 Nov 20;10:1205
pubmed: 31824397
Mol Neurobiol. 2017 Sep;54(7):5361-5374
pubmed: 27590138
Curr Stem Cell Res Ther. 2016;11(4):301-12
pubmed: 26018231
Neuron. 2016 May 4;90(3):535-50
pubmed: 27112497
Neurology. 2008 Mar 25;70(13):1004-9
pubmed: 18199832
Nature. 1993 Mar 4;362(6415):59-62
pubmed: 8446170
Science. 2014 Sep 5;345(6201):1139-45
pubmed: 25081482
Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep;15(5-6):362-70
pubmed: 24984169
Sci Rep. 2017 Dec;7(1):50
pubmed: 28246392
Cell Rep. 2013 Dec 12;5(5):1178-86
pubmed: 24290757
Front Neurosci. 2020 Mar 04;14:73
pubmed: 32194366
J Neurol Sci. 2009 Oct 15;285(1-2):95-9
pubmed: 19552925
Ann Clin Transl Neurol. 2018 Oct 22;5(12):1522-1533
pubmed: 30564619
Nat Med. 2018 Oct;24(10):1579-1589
pubmed: 30127392
Oxid Med Cell Longev. 2019 Jun 9;2019:1712323
pubmed: 31281567
Nat Commun. 2019 Jul 2;10(1):2906
pubmed: 31266945
Neuroepidemiology. 2013;41(2):118-30
pubmed: 23860588
Front Neurosci. 2019 Dec 06;13:1310
pubmed: 31866818
Brain. 2019 Mar 1;142(3):586-605
pubmed: 30698736
Int J Environ Res Public Health. 2019 Jun 05;16(11):
pubmed: 31195602
Neuron. 2013 Oct 16;80(2):415-28
pubmed: 24139042
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
Mol Neurobiol. 2018 Aug;55(8):6480-6499
pubmed: 29322304
J Cell Sci. 1997 Aug;110 ( Pt 15):1741-50
pubmed: 9264461
Science. 2009 Feb 27;323(5918):1205-8
pubmed: 19251627
Adv Exp Med Biol. 2017;965:323-343
pubmed: 28132186
World J Biol Psychiatry. 2019 Mar;20(3):190-196
pubmed: 28922966
Mol Cell Neurosci. 2018 Oct;92:12-16
pubmed: 29928993
Mol Med Rep. 2016 Oct;14(4):3184-98
pubmed: 27511317
Neurotherapeutics. 2016 Oct;13(4):905-917
pubmed: 27444617
J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1016-1023
pubmed: 29706605
Nat Rev Rheumatol. 2017 Mar;13(3):174-181
pubmed: 28148918
Mol Genet Metab. 2012 Mar;105(3):472-8
pubmed: 22264771
Nat Rev Mol Cell Biol. 2012 Nov;13(11):713-26
pubmed: 23034453
Nat Commun. 2019 Sep 12;10(1):4147
pubmed: 31515480
Hum Mol Genet. 2014 Jul 1;23(13):3579-95
pubmed: 24549040
Front Mol Neurosci. 2018 May 31;11:182
pubmed: 29904341
PLoS Genet. 2008 Nov;4(11):e1000282
pubmed: 19043545
Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):478-84
pubmed: 26161993
Annu Rev Genomics Hum Genet. 2018 Aug 31;19:15-41
pubmed: 29727584
Autophagy. 2019 May;15(5):913-914
pubmed: 30767689
Genes (Basel). 2019 Dec 05;10(12):
pubmed: 31817338
Nat Genet. 2012 Jan 29;44(3):269-76
pubmed: 22286219
J Alzheimers Dis. 2019;72(1):127-137
pubmed: 31561355
Ann Neurol. 2015 Sep;78(3):426-38
pubmed: 26044557
Front Neurol. 2018 Dec 18;9:1126
pubmed: 30619076
Degener Neurol Neuromuscul Dis. 2016 May 13;6:49-64
pubmed: 30050368
Hum Mutat. 2013 Jun;34(6):812-26
pubmed: 23559573
Sci Rep. 2017 Dec 15;7(1):17652
pubmed: 29247199
Intern Med. 2012;51(12):1501-8
pubmed: 22728481
Brain. 2019 May 1;142(5):1176-1194
pubmed: 30938443
J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):467-72
pubmed: 23117489
Cell. 2016 Oct 20;167(3):774-788.e17
pubmed: 27768896
Front Neurosci. 2017 Aug 03;11:442
pubmed: 28824365
Cells. 2019 Dec 26;9(1):
pubmed: 31888078
Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):397-405
pubmed: 23421600
Brain Res Bull. 2019 Mar;146:287-301
pubmed: 30690059
Neurobiol Aging. 2013 Apr;34(4):1312.e1-8
pubmed: 23046859
Front Neurol. 2019 Apr 04;10:284
pubmed: 31019485
Mol Neurobiol. 2016 May;53(4):2222-40
pubmed: 25963727
Neurobiol Aging. 2015 Nov;36(11):3117.e1-3117.e6
pubmed: 26362943
Science. 2016 Mar 18;351(6279):1324-9
pubmed: 26989253
Cell Biol Toxicol. 2017 Apr;33(2):99-112
pubmed: 27900567
Lancet Neurol. 2011 Jan;10(1):75-82
pubmed: 21035400
Cell. 2016 Oct 20;167(3):789-802.e12
pubmed: 27768897
Neurobiol Aging. 2011 Mar;32(3):548.e1-4
pubmed: 20018407
Brain. 1996 Aug;119 ( Pt 4):1153-72
pubmed: 8813280
Acta Neuropathol. 2014 Oct;128(4):485-503
pubmed: 25120191
Hum Mol Genet. 2013 Jul 1;22(13):2676-88
pubmed: 23474818
J Neurol Neurosurg Psychiatry. 2010 May;81(5):572-7
pubmed: 20460594
Nature. 2009 Oct 8;461(7265):747-53
pubmed: 19812666
Sci Transl Med. 2016 Jul 13;8(347):347ra93
pubmed: 27412785
Mol Cell Neurosci. 2013 Sep;56:355-64
pubmed: 23891805
J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):540-549
pubmed: 28057713
Acta Neuropathol. 2016 Jul;132(1):145-7
pubmed: 27206760
Sci Rep. 2018 Sep 25;8(1):14363
pubmed: 30254308
Transl Neurodegener. 2015 Jul 24;4:13
pubmed: 26213621
Mol Neurobiol. 2016 Dec;53(10):6910-6924
pubmed: 26666663
Redox Rep. 2016 May;21(3):104-12
pubmed: 26191780
Science. 2006 Oct 6;314(5796):130-3
pubmed: 17023659
Eur J Neurol. 2018 Jan;25(1):97-104
pubmed: 28940704
Sci Rep. 2018 Jan 18;8(1):1100
pubmed: 29348425
PLoS One. 2012;7(10):e47056
pubmed: 23056579
Neurol Res. 2012 Jul;34(6):576-80
pubmed: 22732100

Auteurs

Débora Lanznaster (D)

UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, France.
ORCID: 0000-0001-5911-3120

Charlotte Veyrat-Durebex (C)

UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, France.
CHU de Tours, Service de Biochimie et Biologie Moléculaire, 37000 Tours, France.

Patrick Vourc'h (P)

UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, France.
CHU de Tours, Service de Biochimie et Biologie Moléculaire, 37000 Tours, France.

Christian R Andres (CR)

UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, France.
CHU de Tours, Service de Biochimie et Biologie Moléculaire, 37000 Tours, France.

Hélène Blasco (H)

UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, France.
CHU de Tours, Service de Biochimie et Biologie Moléculaire, 37000 Tours, France.

Philippe Corcia (P)

UMR 1253, iBrain, University of Tours, Inserm, 37000 Tours, France.
CHU de Tours, Service de Neurologie, 37000 Tours, France.

Articles similaires

Comprehensive comparative analysis and development of molecular markers for Lasianthus species based on complete chloroplast genome sequences.

Yue Zhang, Meifang Song, Deying Tang et al.
1.00
Genome, Chloroplast Phylogeny Genetic Markers Base Composition High-Throughput Nucleotide Sequencing

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Eucaryotes › Animaux › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Protéine C9orf72 › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Cellules › Cellules cultivées › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Disciplines des sciences naturelles › Chimie › Biochimie › Métabolomique › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine de précision › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines à motif de reconnaissance de l'ARN › Ribonucléoprotéines nucléaires hétérogènes › Protéine FUS de liaison à l'ARN › Metabolomics: A Tool to Understand the Impact...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Superoxide dismutase › Superoxide dismutase-1 › Metabolomics: A Tool to Understand the Impact...