MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS.
ALS
MATR3 P154S mutation
Matrin 3
Mouse model
Neuropathology
Journal
Biochemical and biophysical research communications
ISSN: 1090-2104
Titre abrégé: Biochem Biophys Res Commun
Pays: United States
ID NLM: 0372516
Informations de publication
Date de publication:
19 02 2023
19 02 2023
Historique:
received:
05
01
2023
accepted:
11
01
2023
pmc-release:
19
02
2024
pubmed:
24
1
2023
medline:
7
2
2023
entrez:
23
1
2023
Statut:
ppublish
Résumé
Matrin 3 is a nuclear matrix protein that has many roles in RNA processing including splicing and transport of mRNA. Many missense mutations in the Matrin 3 gene (MATR3) have been linked to familial forms of amyotrophic lateral sclerosis (ALS) and distal myopathy. However, the exact role of MATR3 mutations in ALS and myopathy pathogenesis is not understood. To demonstrate a role of MATR3 mutations in vivo, we generated a novel CRISPR/Cas9 mediated knock-in mouse model harboring the MATR3 P154S mutation expressed under the control of the endogenous promoter. The P154S variant of the MATR3 gene has been linked to familial forms of ALS. Heterozygous and homozygous MATR3 P154S knock-in mice did not develop progressive motor deficits compared to wild-type mice. In addition, ALS-like pathology did not develop in nervous or muscle tissue in either heterozygous or homozygous mice. Our results suggest that the MATR3 P154S variant is not sufficient to produce ALS-like pathology in vivo.
Identifiants
pubmed: 36689813
pii: S0006-291X(23)00057-8
doi: 10.1016/j.bbrc.2023.01.032
pmc: PMC10046992
mid: NIHMS1869693
pii:
doi:
Substances chimiques
Nuclear Matrix-Associated Proteins
0
matrin-3 protein, mouse
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
164-172Subventions
Organisme : NINDS NIH HHS
ID : R21 NS116385
Pays : United States
Informations de copyright
Copyright © 2023 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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