C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.

ABSTRACT: Missense mutation C694R in the RING domain of the LRSAM1 gene results in a dominantly inherited polyneuropathy, Charcot-Marie-Tooth disease type 2P (CMT2P). We have generated and characterized a Lrsam1^C698R knock-in mouse model produced through CRISPR/Cas9 technology. Both heterozygous (Lrsam1^+/C698R) and homozygous (Lrsam1^C698/C698R) knock-in mice exhibited normal motor functions on behavioral tests as well as normal on nerve conduction studies. Axonal density and myelin thickness were not significantly different between mutants and wild-type mice by sciatic nerve morphometric analysis up to 17 months of age. In line with these normal findings, protein-protein interactions between mutant LRSAM1 and RNA-binding proteins (such as FUS and G3BP1) were still pr

SUBMITTER: Moiseev D 

PROVIDER: S-EPMC9288509 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature