Animal Models of CMT2A: State-of-art and Therapeutic Implications.
Animal model
CMT2A
MFN2
Strengths and weaknesses
Journal
Molecular neurobiology
ISSN: 1559-1182
Titre abrégé: Mol Neurobiol
Pays: United States
ID NLM: 8900963
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
01
04
2020
accepted:
19
08
2020
pubmed:
29
8
2020
medline:
2
7
2021
entrez:
29
8
2020
Statut:
ppublish
Résumé
Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration are largely unclear. No effective treatment exists for CMT2A, which has a high degree of genetic/phenotypic heterogeneity. The identification of mutations in MFN2 has allowed the generation of diverse transgenic animal models, but to date, their ability to recapitulate the CMT2A phenotype is limited, precluding elucidation of its pathogenesis and discovery of therapeutic strategies. This review will critically present recent progress in in vivo CMT2A disease modeling, discoveries, drawbacks and limitations, current challenges, and key reflections to advance the field towards developing effective therapies for these patients.
Identifiants
pubmed: 32856204
doi: 10.1007/s12035-020-02081-3
pii: 10.1007/s12035-020-02081-3
pmc: PMC7541381
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
5121-5129Subventions
Organisme : Italian Ministry of Health
ID : GR-2018-12365358
Organisme : Italian Ministry
ID : Ricerca Corrente 2020
Références
J Neurol Sci. 2015 Sep 15;356(1-2):7-18
pubmed: 26143526
Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):2328-2337
pubmed: 30659145
J Clin Invest. 2019 Mar 18;129(4):1756-1771
pubmed: 30882371
Dev Biol. 2002 Apr 15;244(2):305-18
pubmed: 11944939
Exp Neurol. 2009 Aug;218(2):268-73
pubmed: 19427854
Neurology. 2011 Jul 12;77(2):168-73
pubmed: 21715711
Hum Gene Ther Methods. 2012 Aug;23(4):242-54
pubmed: 22934828
Nat Med. 2011 Jul 24;17(8):968-74
pubmed: 21785432
J Neurosci. 2012 Mar 21;32(12):4145-55
pubmed: 22442078
Science. 2018 Apr 20;360(6386):336-341
pubmed: 29674596
Exp Neurol. 2015 Jan;263:190-9
pubmed: 25448007
PLoS One. 2013 Jun 26;8(6):e67276
pubmed: 23840650
Cell Mol Life Sci. 2003 Dec;60(12):2547-60
pubmed: 14685682
Neurology. 2008 May 6;70(19):1678-81
pubmed: 18458227
Exp Neurol. 2020 Jun;328:113281
pubmed: 32147437
Hum Mol Genet. 2016 Oct 1;25(19):4266-4281
pubmed: 27506976
Cell Death Dis. 2018 Feb 28;9(3):330
pubmed: 29491355
J Cell Biol. 2007 Feb 12;176(4):405-14
pubmed: 17296794
Neuron. 2006 Sep 21;51(6):715-26
pubmed: 16982418
Mol Neurobiol. 2019 Sep;56(9):6460-6471
pubmed: 30830587
Arch Neurol. 2004 Sep;61(9):1470; author reply 1470
pubmed: 15364699
JAMA Neurol. 2014 Aug;71(8):1036-42
pubmed: 24957169
Anesthesiology. 2016 Dec;125(6):1159-1170
pubmed: 27655218
Bioarchitecture. 2011 Nov 1;1(6):267-270
pubmed: 22545178
PLoS One. 2015 Mar 06;10(3):e0119538
pubmed: 25746468
Arq Neuropsiquiatr. 2011 Jun;69(3):424-30
pubmed: 21755115
J Cell Biol. 2003 Jan 20;160(2):189-200
pubmed: 12527753
J Neuropathol Exp Neurol. 2008 Nov;67(11):1097-102
pubmed: 18957892
Eur J Neurol. 2007 May;14(5):575-7
pubmed: 17437620
Neuron. 1990 Aug;5(2):187-97
pubmed: 2116814
J Neurosci. 2007 Jan 10;27(2):422-30
pubmed: 17215403
Arch Neurol. 2009 Dec;66(12):1511-6
pubmed: 20008656
Bull Acad Natl Med. 2009 Jan;193(1):151-60; discussion 160-1
pubmed: 19718987
Brain. 2006 Aug;129(Pt 8):2103-18
pubmed: 16835246
Histol Histopathol. 2005 Apr;20(2):665-71
pubmed: 15736068
Sci Rep. 2018 Nov 15;8(1):16900
pubmed: 30442897
J Mol Neurosci. 2003;21(2):121-32
pubmed: 14593212
Brain. 2006 Aug;129(Pt 8):2093-102
pubmed: 16714318
J Cell Biol. 2019 Jun 3;218(6):1871-1890
pubmed: 31068376
Nat Rev Mol Cell Biol. 2007 Nov;8(11):870-9
pubmed: 17928812
Ann Neurol. 2006 Feb;59(2):276-81
pubmed: 16437557
Brain. 2012 Jan;135(Pt 1):23-34
pubmed: 22189565
J Biomed Sci. 2015 Jun 19;22:43
pubmed: 26141737
J Peripher Nerv Syst. 2015 Dec;20(4):380-6
pubmed: 26306937
Mitochondrion. 2009 Jun;9(3):222-6
pubmed: 19269351
Neurology. 2005 Aug 9;65(3):496-7
pubmed: 16087932
Neurology. 2008 Dec 9;71(24):1959-66
pubmed: 18946002
Circ Res. 2014 Jan 17;114(2):257-65
pubmed: 24192653
J Neurosci. 2010 Mar 24;30(12):4232-40
pubmed: 20335458
Science. 2004 Aug 6;305(5685):858-62
pubmed: 15297672
Hum Mol Genet. 2019 Jun 1;28(11):1782-1800
pubmed: 30649465
Neuromuscul Disord. 2011 Jan;21(1):58-67
pubmed: 20951042
Neurology. 2005 Jul 26;65(2):197-204
pubmed: 16043786
Nat Genet. 1999 Jan;21(1):70-1
pubmed: 9916792
J Peripher Nerv Syst. 2004 Mar;9(1):7-14
pubmed: 14871449
Hum Mol Genet. 2008 Feb 1;17(3):367-75
pubmed: 17959936
Exp Neurol. 2011 Nov;232(1):7-14
pubmed: 21763310
Rev Prat. 2008 Nov 15;58(17):1917-22
pubmed: 19157208
Neurology. 2011 May 17;76(20):1690-6
pubmed: 21508331
PLoS One. 2016 Dec 1;11(12):e0167573
pubmed: 27907123
Arch Neurol. 2011 Oct;68(10):1295-302
pubmed: 21987543
Immunol Ser. 1989;45:121-48
pubmed: 2577315
Cold Spring Harb Protoc. 2015 Oct 01;2015(10):875-82
pubmed: 26430261
Nat Genet. 2004 May;36(5):449-51
pubmed: 15064763
Genesis. 2007 Nov;45(11):679-88
pubmed: 17987661
Brain. 2010 May;133(Pt 5):1460-9
pubmed: 20418531
Cell. 2010 Apr 16;141(2):280-9
pubmed: 20403324
Biochim Biophys Acta. 2015 Nov;1852(11):2484-93
pubmed: 26300485