Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.

ABSTRACT: ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for approximately 30% of nemaline myopathy (NM) cases. Previous studies of weakness in NM have focused on muscle structure and contractility, but genetic issues alone do not explain the phenotypic heterogeneity observed in patients with NM or NM mouse models. To identify additional biological processes related to NM phenotypic severity, proteomic analysis was performed using muscle protein isolates from wild-type mice in comparison to moderately affected knock-in (KI) Acta1^H40Y and the minimally affected transgenic (Tg) ACTA1^D286G NM mice. This analysis revealed abnormalities in mitochondrial function and stress-related pathw

SUBMITTER: Tinklenberg JA 

PROVIDER: S-EPMC10548277 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature