Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice.

ABSTRACT: DUX4 is the major gene responsible for facioscapulohumeral dystrophy (FSHD). Several mouse models expressing DUX4 have been developed, the most commonly used by academic laboratories being ACTA1-MCM/FLExDUX4. In this study, molecular and histological modifications in the tibialis anterior and quadriceps muscles were investigated in this model at different time points. We investigated several changes that could be used as markers of therapeutic efficacy. Our results confirm the progressive muscular dystrophy previously described but also highlight biases associated with tamoxifen injections and the complexity of choosing the genes used to calculate a DUX4-pathway gene composite score. We also developed a comprehensive force test that better reflects the movements made in everyday life. This

SUBMITTER: Sohn S 

PROVIDER: S-EPMC11545788 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature