PTCD1 Is Required for Mitochondrial Oxidative-Phosphorylation: Possible Genetic Association with Alzheimer's Disease.
Adenosine Triphosphate
/ metabolism
Alzheimer Disease
/ genetics
Electron Transport Chain Complex Proteins
/ genetics
Energy Metabolism
/ genetics
Gene Knockout Techniques
Genetic Variation
Glycolysis
/ genetics
HeLa Cells
Humans
Mitochondria
/ genetics
Mitochondrial Proteins
/ genetics
Oxidative Phosphorylation
Oxidative Stress
Ribosomes
/ metabolism
Stress, Physiological
/ genetics
Alzheimer's disease
PTCD1
energy generation
mitochondria
oxidative phosphorylation
Journal
The Journal of neuroscience : the official journal of the Society for Neuroscience
ISSN: 1529-2401
Titre abrégé: J Neurosci
Pays: United States
ID NLM: 8102140
Informations de publication
Date de publication:
12 06 2019
12 06 2019
Historique:
received:
14
01
2019
revised:
26
03
2019
accepted:
28
03
2019
pubmed:
6
4
2019
medline:
13
6
2020
entrez:
6
4
2019
Statut:
ppublish
Résumé
In addition to amyloid-β plaques and tau tangles, mitochondrial dysfunction is implicated in the pathology of Alzheimer's disease (AD). Neurons heavily rely on mitochondrial function, and deficits in brain energy metabolism are detected early in AD; however, direct human genetic evidence for mitochondrial involvement in AD pathogenesis is limited. We analyzed whole-exome sequencing data of 4549 AD cases and 3332 age-matched controls and discovered that rare protein altering variants in the gene pentatricopeptide repeat-containing protein 1 (
Identifiants
pubmed: 30948477
pii: JNEUROSCI.0116-19.2019
doi: 10.1523/JNEUROSCI.0116-19.2019
pmc: PMC6561697
doi:
Substances chimiques
Electron Transport Chain Complex Proteins
0
Mitochondrial Proteins
0
PTCD1 protein, human
0
Adenosine Triphosphate
8L70Q75FXE
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4636-4656Subventions
Organisme : NIA NIH HHS
ID : U01 AG052410
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG049506
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG023629
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG057659
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC85082
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG052411
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201500001I
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL070825
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003273
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG033193
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268200800007C
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS017950
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003079
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC85080
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG052409
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL080295
Pays : United States
Organisme : NIA NIH HHS
ID : U24 AG021886
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG020098
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201200036C
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC2 HL102419
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG049508
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG049607
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL130114
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG049505
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG016976
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC55222
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG054076
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC85079
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC85083
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG032984
Pays : United States
Organisme : NIA NIH HHS
ID : U24 AG041689
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC85086
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG033040
Pays : United States
Organisme : NIA NIH HHS
ID : UF1 AG047133
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC25195
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003067
Pays : United States
Organisme : NIA NIH HHS
ID : U54 AG052427
Pays : United States
Organisme : NHLBI NIH HHS
ID : N01HC85081
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG049507
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2019 the authors.
Déclaration de conflit d'intérêts
Conflict of interest: All authors were full-time employees of Genentech, a member of the Roche group, during the course of this study.
Références
J Neurosci. 2001 May 1;21(9):3017-23
pubmed: 11312286
J Neuropathol Exp Neurol. 2001 Aug;60(8):759-67
pubmed: 11487050
Neuron. 2003 Mar 27;37(6):925-37
pubmed: 12670422
Mol Biol Cell. 2003 Jun;14(6):2292-302
pubmed: 12808030
Science. 2004 Apr 16;304(5669):448-52
pubmed: 15087549
J Biol Chem. 2005 Jun 24;280(25):23802-14
pubmed: 15831501
Neurobiol Aging. 2006 Aug;27(8):1094-9
pubmed: 15993986
Nat Cell Biol. 2005 Sep;7(9):909-15
pubmed: 16113678
FASEB J. 2005 Dec;19(14):2040-1
pubmed: 16210396
Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18694-9
pubmed: 16344479
Nat Genet. 2006 Aug;38(8):904-9
pubmed: 16862161
J Neurosci. 2006 Aug 30;26(35):9057-68
pubmed: 16943564
Nature. 2006 Oct 19;443(7113):787-95
pubmed: 17051205
Nat Genet. 2007 Jan;39(1):17-23
pubmed: 17192785
Toxicol Sci. 2007 Jun;97(2):539-47
pubmed: 17361016
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4441-6
pubmed: 18332434
Biochim Biophys Acta. 2009 Jan;1793(1):5-19
pubmed: 18620004
Nat Biotechnol. 2008 Dec;26(12):1367-72
pubmed: 19029910
Ann N Y Acad Sci. 2008 Dec;1147:180-95
pubmed: 19076441
Neuron. 2008 Dec 10;60(5):748-66
pubmed: 19081372
Clin Cancer Res. 2009 Jan 1;15(1):48-59
pubmed: 19118032
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
J Neurosci. 2009 Jul 15;29(28):9090-103
pubmed: 19605646
Nucleic Acids Res. 2009 Sep;37(17):5859-67
pubmed: 19651879
Antioxid Redox Signal. 2010 Mar;12(3):327-36
pubmed: 19686046
Biochim Biophys Acta. 2010 Feb;1797(2):113-28
pubmed: 19761752
Biochim Biophys Acta. 2010 Jan;1802(1):2-10
pubmed: 19853658
Proc Natl Acad Sci U S A. 2009 Nov 24;106(47):20057-62
pubmed: 19897719
Pharmacogenomics J. 2010 Oct;10(5):375-84
pubmed: 20029386
Hum Genomics. 2010 Feb;4(3):170-93
pubmed: 20368139
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Annu Rev Genomics Hum Genet. 2010;11:25-44
pubmed: 20690818
Curr Drug Targets. 2010 Oct;11(10):1193-206
pubmed: 20840064
Nat Rev Neurol. 2010 Oct;6(10):551-9
pubmed: 20842183
J Biol Chem. 2011 Feb 18;286(7):5215-21
pubmed: 21118811
Lancet Neurol. 2011 Feb;10(2):187-98
pubmed: 21147038
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Alzheimers Dement. 2011 May;7(3):280-92
pubmed: 21514248
Cell Metab. 2011 May 4;13(5):527-39
pubmed: 21531335
RNA Biol. 2011 Jul-Aug;8(4):616-26
pubmed: 21593607
Arch Neurol. 2011 Aug;68(8):1013-9
pubmed: 21825236
J Alzheimers Dis. 2011;27(3):483-90
pubmed: 21841246
Cell Cycle. 2011 Sep 1;10(17):2904-16
pubmed: 21857155
Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):1008-16
pubmed: 22051507
Cell Metab. 2011 Dec 7;14(6):724-38
pubmed: 22152301
PLoS One. 2011;6(12):e28536
pubmed: 22194845
Nucleic Acids Res. 2012 May;40(9):4040-51
pubmed: 22238375
J Pharmacol Exp Ther. 2012 Sep;342(3):619-30
pubmed: 22700435
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Nat Methods. 2012 Jun 28;9(7):676-82
pubmed: 22743772
Wiley Interdiscip Rev RNA. 2012 Sep-Oct;3(5):675-95
pubmed: 22777840
Nature. 2012 Aug 2;488(7409):96-9
pubmed: 22801501
EMBO J. 2013 Jan 9;32(1):9-29
pubmed: 23149385
Mol Biol Cell. 2013 Feb;24(3):184-93
pubmed: 23171548
Nucleic Acids Res. 2013 Apr 1;41(6):3713-22
pubmed: 23396448
Biochim Biophys Acta. 2014 Aug;1842(8):1219-31
pubmed: 24071439
Nature. 2014 Jan 16;505(7483):335-43
pubmed: 24429632
Bioinformatics. 2014 Sep 1;30(17):2524-6
pubmed: 24794931
Mol Biol Cell. 2014 Sep 1;25(17):2542-55
pubmed: 25009282
JAMA. 2014 Jul 2;312(1):68-77
pubmed: 25058219
Cell Metab. 2014 Aug 5;20(2):226-40
pubmed: 25088301
J Neurosci. 2014 Sep 3;34(36):11929-47
pubmed: 25186741
Cold Spring Harb Protoc. 2014 Oct 01;2014(10):pdb.prot080028
pubmed: 25275106
Cold Spring Harb Protoc. 2014 Oct 01;2014(10):pdb.top074542
pubmed: 25275115
Curr Protoc Bioinformatics. 2013;43:11.10.1-33
pubmed: 25431634
World J Diabetes. 2014 Dec 15;5(6):889-93
pubmed: 25512792
Oxid Med Cell Longev. 2015;2015:803942
pubmed: 25973139
Mol Neurobiol. 2016 Nov;53(9):6078-6090
pubmed: 26537901
Neuron. 2016 Jan 6;89(1):70-82
pubmed: 26687840
Cell. 2016 Feb 11;164(4):603-15
pubmed: 26871627
Lancet. 2016 Jul 30;388(10043):505-17
pubmed: 26921134
Mol Cell. 2016 Mar 3;61(5):654-666
pubmed: 26942670
Aging Dis. 2016 Mar 15;7(2):201-14
pubmed: 27114851
Nucleic Acids Res. 2017 Jan 4;45(D1):D183-D189
pubmed: 27899595
Trends Neurosci. 2017 Mar;40(3):151-166
pubmed: 28190529
Trends Mol Med. 2017 Jun;23(6):512-533
pubmed: 28442216
J Neurosci Res. 2017 Nov;95(11):2217-2235
pubmed: 28463438
Nat Genet. 2017 Sep;49(9):1373-1384
pubmed: 28714976
Cell. 2017 Aug 10;170(4):649-663.e13
pubmed: 28802038
Sci Adv. 2017 Aug 16;3(8):e1700677
pubmed: 28835921
Nat Struct Mol Biol. 2017 Oct;24(10):866-869
pubmed: 28892042
Front Aging Neurosci. 2017 Oct 31;9:345
pubmed: 29163128
J Cell Biol. 2018 Feb 5;217(2):459-472
pubmed: 29196460
Nat Rev Neurosci. 2018 Feb;19(2):63-80
pubmed: 29321682
Nat Rev Neurosci. 2018 Jan 19;19(2):63-80
pubmed: 29348666
Cell Rep. 2018 Apr 3;23(1):127-142
pubmed: 29617655
Front Neurosci. 2018 Jul 05;12:441
pubmed: 30026680
Front Aging Neurosci. 2018 Jul 09;10:202
pubmed: 30038567
Pharmacol Res. 2018 Dec;138:2-15
pubmed: 30144530
Nat Rev Neurol. 2018 Nov;14(11):667-675
pubmed: 30266932