Different mouse models of nemaline myopathy harboring Acta1 mutations display differing abnormalities related to mitochondrial biology

ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for roughly 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 he terogeneity observed in NM patients or mouse models. To identify additional biological processes related to NM phenotypic severity, proteomic analysis was performed using muscle protein isolates from wild type (WT) mice in comparison to moderately affected KI.

Source: American Journal of Pathology - July 5, 2023 Category: Pathology Authors: Jennifer A. Tinklenberg, Rebecca A. Slick, Jessica Sutton, Liwen Zhang, Hui Meng, Margaret J. Beatka, Mark Vanden Avond, Mariah J. Prom, Emily Ott, Federica Montanaro, James Heisner, Rafael Toro, Edna C. Hardeman, Aron M. Geurts, David Stowe, R. Blake Hil Tags: Regular Article Source Type: research