MFN2 mutations cause compensatory mitochondrial DNA proliferation

MFN2 mutations cause compensatory mitochondrial DNA proliferation

Saved in:
Bibliographic Details
Published in:Brain (London, England : 1878) Vol. 135; no. Pt 8; pp. e219, 1 - e219
Main Authors: Sitarz, Kamil S, Yu-Wai-Man, Patrick, Pyle, Angela, Stewart, Joanna D, Rautenstrauss, Bernd, Seeman, Pavel, Reilly, Mary M, Horvath, Rita, Chinnery, Patrick F
Format: Journal Article
Language:English
Published: England Oxford University Press 01-08-2012
Subjects:
DNA, Mitochondrial - genetics
Female
GTP Phosphohydrolases - genetics
Humans
Letters to the Editor
Male
Mitochondrial Myopathies - genetics
Mitochondrial Proteins - genetics
Optic Atrophy - genetics
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Author Seeman, Pavel
Rautenstrauss, Bernd
Sitarz, Kamil S
Pyle, Angela
Reilly, Mary M
Yu-Wai-Man, Patrick
Stewart, Joanna D
Chinnery, Patrick F
Horvath, Rita
AuthorAffiliation 6 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
5 Department of Child Neurology, DNA Laboratory, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic
1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
7 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK
2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK
3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany
4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany
AuthorAffiliation_xml – name: 1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK
– name: 3 IfADo – Leibniz Research Centre for Working Environment and Human Factors, Dortmund, Germany
– name: 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK
– name: 7 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK
– name: 4 Friedrich-Baur Institute, Ludwig Maximilian University, Munich, Germany
– name: 5 Department of Child Neurology, DNA Laboratory, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic
– name: 6 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
Author_xml – sequence: 1
  givenname: Kamil S
  surname: Sitarz
  fullname: Sitarz, Kamil S
– sequence: 2
  givenname: Patrick
  surname: Yu-Wai-Man
  fullname: Yu-Wai-Man, Patrick
– sequence: 3
  givenname: Angela
  surname: Pyle
  fullname: Pyle, Angela
– sequence: 4
  givenname: Joanna D
  surname: Stewart
  fullname: Stewart, Joanna D
– sequence: 5
  givenname: Bernd
  surname: Rautenstrauss
  fullname: Rautenstrauss, Bernd
– sequence: 6
  givenname: Pavel
  surname: Seeman
  fullname: Seeman, Pavel
– sequence: 7
  givenname: Mary M
  surname: Reilly
  fullname: Reilly, Mary M
– sequence: 8
  givenname: Rita
  surname: Horvath
  fullname: Horvath, Rita
– sequence: 9
  givenname: Patrick F
  surname: Chinnery
  fullname: Chinnery, Patrick F
BackLink https://www.ncbi.nlm.nih.gov/pubmed/22492563$$D View this record in MEDLINE/PubMed
BookMark eNpVkD1PwzAQhi1URD9gY0YZGQj1ZxIvSFWhgFTKArPlOA41SuxgJ6D-e0JbKpBOuuGee-_0jMHAOqsBOEfwGkFOprmXxk7lV4CUH4ERogmMMWLJAIwghEmccQaHYBzCO4SIEpycgCHGlGOWkBGYPS1WOKq7VrbG2RAp2QUdKVc32gbZOr-JatM6tXa28EZW0e1qFjXeVabUfrtzCo5LWQV9tu8T8Lq4e5k_xMvn-8f5bBkrktE21gSzAmWp4qVMyxLxlKNclVpmmSrSXKU5kkmRE82YQn1xXqCCEYmVogVkmEzAzS636fJaF0rb1stKNN7U0m-Ek0b8n1izFm_uUxAKU4p4H3C5D_Duo9OhFbUJSleVtNp1QSBIIKEZ51mPXu1Q5V0IXpeHMwiKH-tia13srPf4xd_XDvCvZvINnuGDfQ
CitedBy_id crossref_primary_10_1016_j_tox_2017_07_019
crossref_primary_10_1242_dmm_048912
crossref_primary_10_1016_j_placenta_2016_12_012
crossref_primary_10_3390_biology10040268
crossref_primary_10_12688_f1000research_53230_2
crossref_primary_10_1093_hmg_ddt359
crossref_primary_10_1111_jns_12159
crossref_primary_10_12688_f1000research_53230_1
crossref_primary_10_1038_nrneurol_2014_228
crossref_primary_10_1038_s41598_018_35133_9
crossref_primary_10_1212_WNL_0b013e31826d5f60
crossref_primary_10_1007_s00439_013_1402_4
crossref_primary_10_1007_s13365_022_01052_9
crossref_primary_10_1136_bmjopen_2018_021632
crossref_primary_10_2217_fnl_13_8
crossref_primary_10_1016_j_gene_2023_147684
crossref_primary_10_1155_2018_2378189
crossref_primary_10_1097_QAI_0000000000001930
crossref_primary_10_1002_mus_23681
crossref_primary_10_1111_jns_12145
crossref_primary_10_1016_j_isci_2023_107014
crossref_primary_10_1586_ern_13_19
crossref_primary_10_1111_jns_12228
crossref_primary_10_3390_dna2020010
crossref_primary_10_1016_j_bbadis_2015_05_016
crossref_primary_10_1093_hmg_ddy033
crossref_primary_10_1016_j_neulet_2015_04_001
crossref_primary_10_1089_aid_2018_0025
crossref_primary_10_3389_fneur_2023_1239725
crossref_primary_10_1007_s10048_019_00591_4
crossref_primary_10_1016_j_mito_2021_09_011
crossref_primary_10_1016_j_mito_2013_02_001
crossref_primary_10_1111_ene_14260
crossref_primary_10_1093_brain_aws052
crossref_primary_10_3389_fcell_2022_858286
crossref_primary_10_1007_s00401_012_1036_y
Cites_doi 10.1093/hmg/ddq209
10.1006/jtbi.2003.3207
10.1038/ng1341
10.1093/brain/awl061
10.1101/gr.108696.110
10.1016/j.nmd.2003.12.004
10.1086/518901
10.1086/302311
10.1016/j.cell.2010.02.026
10.1007/s00134-010-1823-7
10.1002/ana.20797
10.1093/brain/awm298
10.1093/brain/awm272
10.1093/brain/awq007
ContentType Journal Article
Copyright The Author (2012). Published by Oxford University Press on behalf of the Guarantors of Brain. 2012
Copyright_xml – notice: The Author (2012). Published by Oxford University Press on behalf of the Guarantors of Brain. 2012
DBID CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7X8
5PM
DOI 10.1093/brain/aws049
DatabaseName Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
MEDLINE - Academic
PubMed Central (Full Participant titles)
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
Database_xml – sequence: 1
  dbid: ECM
  name: MEDLINE
  url: https://search.ebscohost.com/login.aspx?direct=true&db=cmedm&site=ehost-live
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1460-2156
EndPage e219
ExternalDocumentID 10_1093_brain_aws049
22492563
Genre Letter
Comment
Research Support, Non-U.S. Gov't
GrantInformation_xml – fundername: Medical Research Council
  grantid: G0601943
– fundername: Medical Research Council
  grantid: G0701386
– fundername: Wellcome Trust
  grantid: 096919
– fundername: Medical Research Council
  grantid: G1002570
GroupedDBID ---
-E4
-~X
.2P
.55
.GJ
.I3
.XZ
.ZR
0R~
1CY
1TH
23N
2WC
354
3O-
4.4
41~
482
48X
53G
5GY
5RE
5VS
5WA
5WD
6.Y
6PF
70D
AABZA
AACZT
AAGKA
AAIMJ
AAJKP
AAJQQ
AAMDB
AAMVS
AAOGV
AAPGJ
AAPNW
AAPQZ
AAPXW
AAQQT
AARHZ
AAUAY
AAUQX
AAVAP
AAVLN
AAWDT
AAWTL
AAYJJ
ABEUO
ABIVO
ABIXL
ABJNI
ABKDP
ABLJU
ABMNT
ABNHQ
ABNKS
ABPTD
ABQLI
ABQNK
ABQTQ
ABSAR
ABSMQ
ABWST
ABXVV
ABZBJ
ACBNA
ACFRR
ACGFS
ACIWK
ACPQN
ACPRK
ACUFI
ACUTJ
ACUTO
ACYHN
ACZBC
ADBBV
ADEYI
ADEZT
ADGKP
ADGZP
ADHKW
ADHZD
ADIPN
ADJQC
ADOCK
ADQBN
ADRIX
ADRTK
ADVEK
ADYVW
ADZXQ
AEGPL
AEHUL
AEJOX
AEKPW
AEKSI
AELWJ
AEMDU
AENEX
AENZO
AEPUE
AETBJ
AEWNT
AFFNX
AFFZL
AFGWE
AFIYH
AFOFC
AFSHK
AFXAL
AFXEN
AFYAG
AGINJ
AGKEF
AGKRT
AGMDO
AGQXC
AGSYK
AGUTN
AHMBA
AHXPO
AI.
AIJHB
AJEEA
AKWXX
ALMA_UNASSIGNED_HOLDINGS
ALUQC
ANFBD
APIBT
APJGH
APWMN
AQDSO
AQKUS
ARIXL
ASAOO
ASPBG
ATDFG
ATGXG
ATTQO
AVNTJ
AVWKF
AXUDD
AYOIW
AZFZN
BAWUL
BAYMD
BCRHZ
BEYMZ
BHONS
BQDIO
BR6
BSWAC
BTRTY
BVRKM
BZKNY
C1A
C45
CAG
CDBKE
CGR
COF
CS3
CUY
CVF
CXTWN
CZ4
DAKXR
DFGAJ
DIK
DILTD
DU5
D~K
E3Z
EBS
ECM
EE~
EIF
EIHJH
EJD
ELUNK
EMOBN
ENERS
F20
F5P
F9B
FECEO
FEDTE
FHSFR
FLUFQ
FOEOM
FOTVD
FQBLK
G8K
GAUVT
GJXCC
GX1
H13
H5~
HAR
HVGLF
HW0
HZ~
IOX
J21
J5H
JXSIZ
KAQDR
KBUDW
KOP
KQ8
KSI
KSN
L7B
M-Z
M49
MBLQV
MBTAY
MHKGH
ML0
MVM
N4W
N9A
NGC
NLBLG
NOMLY
NOYVH
NPM
NTWIH
NU-
NVLIB
O0~
O9-
OAUYM
OAWHX
OBOKY
OCZFY
ODMLO
OHH
OHT
OJQWA
OJZSN
OK1
OPAEJ
OVD
OWPYF
O~Y
P2P
PAFKI
PB-
PEELM
PQQKQ
Q1.
Q5Y
QBD
R44
RD5
RIG
RNI
ROL
ROX
ROZ
RUSNO
RW1
RXO
RZF
RZO
TCN
TCURE
TEORI
TJX
TLC
TMA
TR2
VH1
VVN
W8F
WH7
WOQ
X7H
X7M
XJT
XOL
YAYTL
YKOAZ
YQJ
YSK
YXANX
ZCG
ZGI
ZKB
ZKX
ZXP
~91
AAYXX
ABDPE
ABEJV
CITATION
7X8
5PM
AASNB
ID FETCH-LOGICAL-c384t-e325d187c9fa7ff19791bcfea88cd7bc7b1a6db3e55c15c199d1d53a2cc4d0523
ISSN 0006-8950
IngestDate Tue Sep 17 20:57:44 EDT 2024
Fri Oct 25 08:01:05 EDT 2024
Thu Nov 21 20:43:47 EST 2024
Wed Oct 16 00:43:59 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue Pt 8
Language English
License This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-c384t-e325d187c9fa7ff19791bcfea88cd7bc7b1a6db3e55c15c199d1d53a2cc4d0523
Notes SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ObjectType-Commentary-2
ObjectType-Article-3
OpenAccessLink https://pubmed.ncbi.nlm.nih.gov/PMC3407419
PMID 22492563
PQID 1030348998
PQPubID 23479
ParticipantIDs pubmedcentral_primary_oai_pubmedcentral_nih_gov_3407419
proquest_miscellaneous_1030348998
crossref_primary_10_1093_brain_aws049
pubmed_primary_22492563
PublicationCentury 2000
PublicationDate 2012-08-01
PublicationDateYYYYMMDD 2012-08-01
PublicationDate_xml – month: 08
  year: 2012
  text: 2012-08-01
  day: 01
PublicationDecade 2010
PublicationPlace England
PublicationPlace_xml – name: England
PublicationTitle Brain (London, England : 1878)
PublicationTitleAlternate Brain
PublicationYear 2012
Publisher Oxford University Press
Publisher_xml – name: Oxford University Press
References 22189565 - Brain. 2012 Jan;135(Pt 1):23-34
Elachouri ( key 20170624052758_aws049-B7) 2011; 21
Yu-Wai-Man ( key 20170624052758_aws049-B13) 2010; 19
Zuchner ( key 20170624052758_aws049-B14) 2006; 59
Aure ( key 20170624052758_aws049-B2) 2006; 129
Capps ( key 20170624052758_aws049-B3) 2003; 221
Chinnery ( key 20170624052758_aws049-B5) 1999; 64
Yu-Wai-Man ( key 20170624052758_aws049-B12) 2010; 133
Chen ( key 20170624052758_aws049-B4) 2010; 141
Amati-Bonneau ( key 20170624052758_aws049-B1) 2008; 131
Durham ( key 20170624052758_aws049-B6) 2007; 81
Hudson ( key 20170624052758_aws049-B8) 2008; 131
Taylor ( key 20170624052758_aws049-B11) 2004; 14
Rouzier ( key 20170624052758_aws049-B10) 2011
Zuchner ( key 20170624052758_aws049-B15) 2004; 36
Pyle ( key 20170624052758_aws049-B9) 2010; 36
References_xml – year: 2011
  ident: key 20170624052758_aws049-B10
  article-title: The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype
  publication-title: Brain
  contributor:
    fullname: Rouzier
– volume: 19
  start-page: 3043
  year: 2010
  ident: key 20170624052758_aws049-B13
  article-title: OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules
  publication-title: Human Molecular Genetics
  doi: 10.1093/hmg/ddq209
  contributor:
    fullname: Yu-Wai-Man
– volume: 221
  start-page: 565
  year: 2003
  ident: key 20170624052758_aws049-B3
  article-title: A model of the nuclear control of mitochondrial DNA replication
  publication-title: J Theor Biol
  doi: 10.1006/jtbi.2003.3207
  contributor:
    fullname: Capps
– volume: 36
  start-page: 449
  year: 2004
  ident: key 20170624052758_aws049-B15
  article-title: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
  publication-title: Nat Genet
  doi: 10.1038/ng1341
  contributor:
    fullname: Zuchner
– volume: 129
  start-page: 1249
  year: 2006
  ident: key 20170624052758_aws049-B2
  article-title: Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation
  publication-title: Brain
  doi: 10.1093/brain/awl061
  contributor:
    fullname: Aure
– volume: 21
  start-page: 12
  year: 2011
  ident: key 20170624052758_aws049-B7
  article-title: OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
  publication-title: Genome Res
  doi: 10.1101/gr.108696.110
  contributor:
    fullname: Elachouri
– volume: 14
  start-page: 237
  year: 2004
  ident: key 20170624052758_aws049-B11
  article-title: The diagnosis of mitochondrial muscle disease
  publication-title: Neuromuscul Disord
  doi: 10.1016/j.nmd.2003.12.004
  contributor:
    fullname: Taylor
– volume: 81
  start-page: 189
  year: 2007
  ident: key 20170624052758_aws049-B6
  article-title: Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A -> G
  publication-title: Am J Hum Genet
  doi: 10.1086/518901
  contributor:
    fullname: Durham
– volume: 64
  start-page: 1158
  year: 1999
  ident: key 20170624052758_aws049-B5
  article-title: Relaxed replication of mtDNA: a model with implications for the expression of disease
  publication-title: Am J Hum Genet
  doi: 10.1086/302311
  contributor:
    fullname: Chinnery
– volume: 141
  start-page: 280
  year: 2010
  ident: key 20170624052758_aws049-B4
  article-title: Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations
  publication-title: Cell
  doi: 10.1016/j.cell.2010.02.026
  contributor:
    fullname: Chen
– volume: 36
  start-page: 956
  year: 2010
  ident: key 20170624052758_aws049-B9
  article-title: Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis
  publication-title: Intensive Care Med
  doi: 10.1007/s00134-010-1823-7
  contributor:
    fullname: Pyle
– volume: 59
  start-page: 276
  year: 2006
  ident: key 20170624052758_aws049-B14
  article-title: Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
  publication-title: Ann Neurol
  doi: 10.1002/ana.20797
  contributor:
    fullname: Zuchner
– volume: 131
  start-page: 338
  year: 2008
  ident: key 20170624052758_aws049-B1
  article-title: OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
  publication-title: Brain
  doi: 10.1093/brain/awm298
  contributor:
    fullname: Amati-Bonneau
– volume: 131
  start-page: 329
  year: 2008
  ident: key 20170624052758_aws049-B8
  article-title: Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
  publication-title: Brain
  doi: 10.1093/brain/awm272
  contributor:
    fullname: Hudson
– volume: 133
  start-page: 771
  year: 2010
  ident: key 20170624052758_aws049-B12
  article-title: Multi-system neurological disease is common in patients with OPA1 mutations
  publication-title: Brain
  doi: 10.1093/brain/awq007
  contributor:
    fullname: Yu-Wai-Man
SSID ssj0014326
Score 2.2949283
SourceID pubmedcentral
proquest
crossref
pubmed
SourceType Open Access Repository
Aggregation Database
Index Database
StartPage e219, 1
SubjectTerms DNA, Mitochondrial - genetics
Female
GTP Phosphohydrolases - genetics
Humans
Letters to the Editor
Male
Mitochondrial Myopathies - genetics
Mitochondrial Proteins - genetics
Optic Atrophy - genetics
Title MFN2 mutations cause compensatory mitochondrial DNA proliferation
URI https://www.ncbi.nlm.nih.gov/pubmed/22492563
https://search.proquest.com/docview/1030348998
https://pubmed.ncbi.nlm.nih.gov/PMC3407419
Volume 135
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://sdu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV3da9swEBdrC2MvZd1ntnV4sD0N09iSP_TorQ6lNNkg6dY9GUk-M0OjlCRmbH_9TpY_4nUP3cMgmFgJZ7j7-XQ6_XRHyNtCFZ4HcuzGeTh2mQTpSoDCldTHycGsOMAsFM_m0ewqPk1Z2pPY-7H_amkcQ1ubk7P_YO1OKA7gd7Q5XtHqeL2T3aeTmf9-WW0bipsSVU1Ix-hYb-yO-hJfYnR6Oq8bdpzOEkPSujYUl95KXckjUeq_dv2wqYQ4indSCfNyK9a_LEdjWV73WdVvlftVlO7UJlttV4DuhNDnn5bRnBh6bTdJzE1Szx4nOl8JrUVDTW4SFIbpEbcJCrBOlSEMMLQIB16XBjt-E1rHCYPbW_7d1r6S6zprMhE_NmPG-5ms3b2ffcomlxcX2SK9WuyRAx99ELrAg-RDev6l22JiGLg2JyFQ6kkt88RKHMYotxYef_JndwKSxUNy2KwknMRC4IjcA_2I3J82XInHJDFIcDokODUSnF0kOAMkOIgEZ4CEJ-Ryki4-nrlNwwxX0ZhtXaB-kKPpFS9EVBQej7gnVQEijlUeSRVJT4S5pBAEysMP57mXB1T4SrHc7A88Jft6peE5cYDiawshSOlzFqiCmz4IlAP6e0NspCPyrlVRdmPromSWz0CzWpWZVeWIvGn1l6HjMrtRQsOq2mSmvx1lZrk_Is-sPjtJvqljGYT4lGig6e4Ppij68Bddfq-Lo1NmgmT-4g7PfUke9Hh9Rfa36wqOyd4mr143YPkNEq2Dtg
link.rule.ids 230,315,782,786,887,27933,27934
linkProvider Oxford University Press
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=MFN2+mutations+cause+compensatory+mitochondrial+DNA+proliferation&rft.jtitle=Brain+%28London%2C+England+%3A+1878%29&rft.au=Sitarz%2C+Kamil+S&rft.au=Yu-Wai-Man%2C+Patrick&rft.au=Pyle%2C+Angela&rft.au=Stewart%2C+Joanna+D&rft.date=2012-08-01&rft.eissn=1460-2156&rft.volume=135&rft.spage=e219&rft.epage=e219&rft_id=info:doi/10.1093%2Fbrain%2Faws049&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0006-8950&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0006-8950&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0006-8950&client=summon