Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis.
amyotrophic lateral sclerosis
biomarkers
genes
mitochondria
therapy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
11 Sep 2021
11 Sep 2021
Historique:
received:
15
08
2021
revised:
08
09
2021
accepted:
09
09
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
25
2
2023
Statut:
epublish
Résumé
Amyotrophic Lateral Sclerosis (ALS), neurodegenerative motor neuron disorder is characterized as multisystem disease with important contribution of genetic factors. The etiopahogenesis of ALS is not fully elucidate, but the dominant theory at present relates to RNA processing, as well as protein aggregation and miss-folding, oxidative stress, glutamate excitotoxicity, inflammation and epigenetic dysregulation. Additionally, as mitochondria plays a leading role in cellular homeostasis maintenance, a rising amount of evidence indicates mitochondrial dysfunction as a substantial contributor to disease onset and progression. The aim of this review is to summarize most relevant findings that link genetic factors in ALS pathogenesis with different mechanisms with mitochondrial involvement (respiratory chain, OXPHOS control, calcium buffering, axonal transport, inflammation, mitophagy, etc.). We highlight the importance of a widening perspective for better understanding overlapping pathophysiological pathways in ALS and neurodegeneration in general. Finally, current and potentially novel therapies, especially gene specific therapies, targeting mitochondrial dysfunction are discussed briefly.
Identifiants
pubmed: 34575995
pii: ijms22189832
doi: 10.3390/ijms22189832
pmc: PMC8469731
pii:
doi:
Substances chimiques
SOD1 protein, human
0
Superoxide Dismutase-1
EC 1.15.1.1
Calcium
SY7Q814VUP
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Références
Cells. 2019 Sep 12;8(9):
pubmed: 31547228
Antioxidants (Basel). 2021 Apr 02;10(4):
pubmed: 33918215
Cell Rep. 2015 May 19;11(7):1018-30
pubmed: 25959818
Biomedicines. 2021 Apr 02;9(4):
pubmed: 33918437
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Trends Mol Med. 2016 Sep;22(9):769-783
pubmed: 27498188
Neurosci Lett. 2014 Jan 24;559:174-8
pubmed: 24334165
Genes Dev. 2020 Jun 1;34(11-12):785-805
pubmed: 32381627
Cell Mol Life Sci. 2012 Dec;69(23):4017-27
pubmed: 22773120
Nature. 2015 Apr 23;520(7548):553-7
pubmed: 25642965
Sci Rep. 2018 Feb 5;8(1):2378
pubmed: 29402919
Neurosci Lett. 2019 Sep 25;710:132933
pubmed: 28669745
Clin Epigenetics. 2020 Sep 11;12(1):137
pubmed: 32917270
Int J Mol Sci. 2019 Sep 06;20(18):
pubmed: 31500113
Cell. 2020 Oct 29;183(3):636-649.e18
pubmed: 33031745
Neuron. 2016 Oct 19;92(2):383-391
pubmed: 27720481
Am J Hum Genet. 2004 Nov;75(5):822-31
pubmed: 15372378
Neurol Clin. 2015 Nov;33(4):855-76
pubmed: 26515626
Prog Med Chem. 2019;58:63-117
pubmed: 30879475
Neuroscientist. 2015 Oct;21(5):519-29
pubmed: 25492944
Nat Rev Dis Primers. 2017 Oct 05;3:17071
pubmed: 28980624
Nature. 2018 Sep;561(7722):258-262
pubmed: 30135585
Acta Neuropathol Commun. 2021 Jan 6;9(1):9
pubmed: 33407930
J Pharmacol Exp Ther. 2007 Aug;322(2):709-20
pubmed: 17496168
Acta Neuropathol. 2021 Feb;141(2):257-279
pubmed: 33398403
Neuroepidemiology. 2019;52(1-2):93-103
pubmed: 30602169
Mayo Clin Proc. 2018 Nov;93(11):1617-1628
pubmed: 30401437
Sci Rep. 2018 Jan 8;8(1):59
pubmed: 29311649
Curr Neurovasc Res. 2013 Aug;10(3):222-30
pubmed: 23713734
Nat Immunol. 2011 Mar;12(3):222-30
pubmed: 21151103
J Neuromuscul Dis. 2021;8(1):25-38
pubmed: 33074186
Curr Opin Neurol. 2019 Oct;32(5):771-776
pubmed: 31361627
J Zhejiang Univ Sci B. 2006 Sep;7(9):749-56
pubmed: 16909478
Nature. 2018 Dec;564(7736):439-443
pubmed: 30405246
Neuron. 2020 Dec 9;108(5):822-842
pubmed: 32931756
Int J Mol Sci. 2020 Oct 13;21(20):
pubmed: 33065963
Nature. 1993 Mar 4;362(6415):59-62
pubmed: 8446170
Neural Regen Res. 2020 Dec;15(12):2186-2194
pubmed: 32594029
Am J Hum Genet. 2016 Sep 1;99(3):735-743
pubmed: 27545679
Int J Mol Sci. 2019 Nov 30;20(23):
pubmed: 31801298
Eur J Neurol. 2014 Mar;21(3):529-36
pubmed: 24447620
Nat Commun. 2017 Jun 06;8:15558
pubmed: 28585542
Lancet. 2017 Nov 4;390(10107):2084-2098
pubmed: 28552366
Epigenomics. 2018 Nov;10(11):1431-1443
pubmed: 30088417
Sci Transl Med. 2020 Sep 2;12(559):
pubmed: 32878979
Rev Neurol (Paris). 2017 May;173(5):263-272
pubmed: 28477850
Neuroepidemiology. 2013;41(2):118-30
pubmed: 23860588
Cells. 2019 Jan 29;8(2):
pubmed: 30700008
Pharmacol Ther. 2016 Aug;164:170-82
pubmed: 27139517
Neuron. 2013 Apr 10;78(1):65-80
pubmed: 23498974
Front Neurosci. 2020 Jul 07;14:684
pubmed: 32733193
Front Cell Neurosci. 2021 May 05;15:661447
pubmed: 34025358
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4439-48
pubmed: 25294927
Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):E3349-58
pubmed: 27247382
Hum Mol Genet. 2021 May 17;30(8):687-705
pubmed: 33749723
Acta Neuropathol. 2019 Jul;138(1):67-84
pubmed: 30937520
Neuron. 2010 Dec 9;68(5):857-64
pubmed: 21145000
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
Proc Natl Acad Sci U S A. 2020 Oct 6;117(40):25104-25115
pubmed: 32958650
Int J Mol Sci. 2021 Jun 07;22(11):
pubmed: 34200161
Cell. 2019 Jan 10;176(1-2):73-84.e15
pubmed: 30612742
Cell Death Dis. 2020 Oct 21;11(10):888
pubmed: 33087694
Ann Neurol. 1999 Nov;46(5):787-90
pubmed: 10553999
EMBO Mol Med. 2016 Dec 1;8(12):1421-1437
pubmed: 27821430
Nat Neurosci. 2015 May;18(5):631-6
pubmed: 25803835
Science. 2015 Mar 27;347(6229):1436-41
pubmed: 25700176
Curr Opin Neurol. 2020 Oct;33(5):641-648
pubmed: 32868602
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Exp Neurobiol. 2013 Sep;22(3):149-57
pubmed: 24167410
J Biol Chem. 2009 May 1;284(18):12384-98
pubmed: 19237541
Arch Ital Biol. 2011 Mar;149(1):113-9
pubmed: 21412720
Arch Neurol. 2011 Nov;68(11):1440-6
pubmed: 22084127
J Clin Invest. 2018 Aug 1;128(8):3558-3567
pubmed: 30010620
Ann Neurol. 2011 Dec;70(6):913-9
pubmed: 21842496
Neuron. 2018 Mar 21;97(6):1268-1283.e6
pubmed: 29566793
Neuropharmacology. 2012 Jun;62(7):2346-52
pubmed: 22369784
Neuropathology. 2020 Feb;40(1):40-56
pubmed: 31802540
Acta Neuropathol Commun. 2016 May 05;4(1):47
pubmed: 27151080
Nat Immunol. 2016 Sep 20;17(10):1142-9
pubmed: 27648547
Nat Neurosci. 2019 Jun;22(6):851-862
pubmed: 31086314
EMBO J. 2010 Aug 18;29(16):2841-57
pubmed: 20606625
Hum Mol Genet. 2013 Oct 1;22(19):3947-59
pubmed: 23736301
Glia. 2011 Jun;59(6):946-58
pubmed: 21446050
Brain. 2018 Mar 1;141(3):688-697
pubmed: 29342275
Am J Manag Care. 2018 Aug;24(15 Suppl):S320-S326
pubmed: 30207670
Stem Cell Reports. 2020 May 12;14(5):892-908
pubmed: 32330447
Rev Neurol (Paris). 2020 Mar;176(3):166-169
pubmed: 31932031
Calcif Tissue Int. 2004 Nov;75(5):347-57
pubmed: 15365659
Neurotherapeutics. 2017 Jul;14(3):762-772
pubmed: 28070747
J Exp Med. 2011 Nov 21;208(12):2429-47
pubmed: 22084410
J Neuropathol Exp Neurol. 2007 Jan;66(1):10-6
pubmed: 17204932
Br Med Bull. 2016 Sep;119(1):87-98
pubmed: 27450455
Curr Opin Neurol. 2019 Oct;32(5):747-757
pubmed: 31403480
Brain. 2014 Aug;137(Pt 8):2329-45
pubmed: 24934289
N Engl J Med. 2020 Jul 9;383(2):109-119
pubmed: 32640130
Front Cell Neurosci. 2021 Apr 01;15:653688
pubmed: 33867942
Neurobiol Dis. 2013 Jan;49:107-17
pubmed: 22975021
Adv Exp Med Biol. 2020;1195:179-187
pubmed: 32468476
Nature. 2010 May 13;465(7295):223-6
pubmed: 20428114
Cells. 2021 Jul 15;10(7):
pubmed: 34359958
Nature. 2018 Jul;559(7713):269-273
pubmed: 29973723
Nat Genet. 2001 Oct;29(2):166-73
pubmed: 11586298
Cell Metab. 2021 Mar 2;33(3):531-546.e9
pubmed: 33545050
Nature. 2008 Oct 2;455(7213):674-8
pubmed: 18724357
Lancet Neurol. 2017 Jul;16(7):505-512
pubmed: 28522181
Nat Genet. 2001 Oct;29(2):160-5
pubmed: 11586297
Ann Neurol. 2016 Oct;80(4):633-7
pubmed: 27463701
Amyotroph Lateral Scler. 2010 Oct;11(5):439-42
pubmed: 20225930
Hum Mol Genet. 2016 Mar 15;25(6):1074-87
pubmed: 26755825
EMBO Mol Med. 2018 Jun;10(6):
pubmed: 29789341
Genes (Basel). 2020 Sep 24;11(10):
pubmed: 32987860
J Alzheimers Dis. 2010;20 Suppl 2:S311-24
pubmed: 20463400
Front Cell Neurosci. 2014 Dec 19;8:433
pubmed: 25565966
Cell Death Dis. 2021 May 10;12(5):466
pubmed: 33972508
Nat Rev Neurol. 2014 Nov;10(11):661-70
pubmed: 25311585