Aberrations in energetic metabolism and stress-related pathways contribute to pathophysiology in the Neb cKO mouse model of nemaline myopathy

Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. While NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted well. The common pathological endpoint of nemaline rods (despite diverse genetic causes) and an unexplained range of muscle weakness suggests that shared secondary processes contributed to the pathogenesis of NM. We speculated that these processes could be identified through a proteome wide interrogation utilizing a mouse model of severe NM in combination with pathway validation and structural/functional analyses.

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