Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis.
OPA1
disease severity
genetic modifiers
mitochondria
mouse strains
optic atrophy
Journal
Frontiers in molecular neuroscience
ISSN: 1662-5099
Titre abrégé: Front Mol Neurosci
Pays: Switzerland
ID NLM: 101477914
Informations de publication
Date de publication:
2023
2023
Historique:
received:
16
06
2023
accepted:
14
08
2023
medline:
22
9
2023
pubmed:
22
9
2023
entrez:
22
9
2023
Statut:
epublish
Résumé
Dominant optic atrophy (DOA) is mainly caused by OPA1 mutations and is characterized by the degeneration of retinal ganglion cells (RGCs), whose axons form the optic nerve. The penetrance of DOA is incomplete and the disease is marked by highly variable expressivity, ranging from asymptomatic patients to some who are totally blind or who suffer from multisystemic effects. No clear genotype-phenotype correlation has been established to date. Taken together, these observations point toward the existence of modifying genetic and/or environmental factors that modulate disease severity. Here, we investigated the influence of genetic background on DOA expressivity by switching the previously described DOA mouse model bearing the c.1065 + 5G → A
Identifiants
pubmed: 37736113
doi: 10.3389/fnmol.2023.1241222
pmc: PMC10510408
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1241222Informations de copyright
Copyright © 2023 Atamena, Gurram, Petsophonsakul, Khosrobakhsh, Arrázola, Botella, Wissinger, Szelechowski and Belenguer.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Prog Retin Eye Res. 2021 Jul;83:100935
pubmed: 33340656
Brain. 2013 May;136(Pt 5):1518-33
pubmed: 23543485
Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4835-45
pubmed: 26218912
Sci Rep. 2016 Sep 08;6:32777
pubmed: 27604820
J Neurosci Methods. 2020 Feb 1;331:108527
pubmed: 31775012
J Neurosci. 1998 Nov 1;18(21):8936-46
pubmed: 9786999
Exp Eye Res. 2011 May;92(5):377-87
pubmed: 21354138
Brain. 2010 Aug;133(Pt 8):2426-38
pubmed: 20659957
Brain. 2014 Aug;137(Pt 8):2164-77
pubmed: 24970096
Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1424-31
pubmed: 19834041
Brain. 2012 Feb;135(Pt 2):493-505
pubmed: 22300878
Hum Mol Genet. 2007 Jun 1;16(11):1307-18
pubmed: 17428816
Curr Protoc Mouse Biol. 2011 Dec 01;1(4):445-62
pubmed: 26069000
Brain. 2007 Apr;130(Pt 4):1029-42
pubmed: 17314202
Genet Med. 2006 Apr;8(4):217-25
pubmed: 16617242
Cell Death Dis. 2011 Dec 08;2:e240
pubmed: 22158479
Mitochondrion. 2017 Sep;36:130-137
pubmed: 28716668
Brain. 2012 Dec;135(Pt 12):3599-613
pubmed: 23250881
Brain Commun. 2020 Jul 15;2(2):fcaa101
pubmed: 33094281
Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):9158-9163
pubmed: 28784771
Neurobiol Dis. 2016 Jun;90:3-19
pubmed: 26494254
Brain. 2009 Sep;132(Pt 9):2317-26
pubmed: 19525327
Mitochondrion. 2019 May;46:262-269
pubmed: 30165240
Free Radic Biol Med. 2020 Jan;146:59-69
pubmed: 31639438
Ann Clin Transl Neurol. 2016 Apr 25;3(6):408-21
pubmed: 27547769
Brain. 2010 Oct;133(10):2942-51
pubmed: 20817698
J Neurosci. 2019 Oct 16;39(42):8200-8208
pubmed: 31619488
J Clin Invest. 2020 Sep 1;130(9):4935-4946
pubmed: 32516135
Endocr Rev. 2020 Apr 1;41(2):
pubmed: 31544208
Nat Genet. 2000 Oct;26(2):207-10
pubmed: 11017079
Hum Mol Genet. 2016 Jun 15;25(12):2539-2551
pubmed: 27260406
BMC Med Genet. 2009 Jul 20;10:70
pubmed: 19619285
EMBO Mol Med. 2021 Jun 7;13(6):e13579
pubmed: 34014035
Diabetologia. 2005 Apr;48(4):675-86
pubmed: 15729571
Orphanet J Rare Dis. 2019 Sep 10;14(1):214
pubmed: 31500643
Am J Hum Genet. 2007 Aug;81(2):228-33
pubmed: 17668373
J Midlife Health. 2022 Jan-Mar;13(1):20-25
pubmed: 35707312