Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy.

ABSTRACT: The severity of brain comorbidities in Duchenne muscular dystrophy (DMD) depends on the mutation position within the DMD gene and differential loss of distinct brain dystrophin isoforms (i.e. Dp427, Dp140, Dp71). Comparative studies of DMD mouse models with different mutation profiles may help to understand this genotype-phenotype relationship. The aim of this study was (1) to compare the phenotypes due to Dp427 loss in mdx5cv mice to those of mdx52 mice, which concomitantly lack Dp427 and Dp140; and (2) to evaluate replicability of phenotypes in separate laboratories. We show that mdx5cv mice displayed impaired fear conditioning and robust anxiety-related responses, the severity of which was higher in mdx52 mice. Depression-related phenotypes presented variably in these models and were di

SUBMITTER: Saoudi A 

PROVIDER: S-EPMC11698058 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature