Proteomic profiling of Neb cKO mice reveals metabolic changes


Topic:

Other

Poster Number: 104

Author(s):

Rebecca Slick, Medical College of Wisconsin, Jennifer Tinklenberg, Medical College of Wisconsin, Jessica Sutton, Medical College of Wisconsin, Liwen Zhang, Ohio State University, Hui Meng, Medical College of Wisconsin, Margaret Beatka, Medical College of Wisconsin, Mark Vanden Avond, Medical College of Wisconsin, Mariah Prom, Medical College of Wisconsin, Emily Ott, Medical College of Wisconsin, Federica Montanaro, University College London, James Heisner, Medical College of Wisconsin, Rafael Toro, Medical College of Wisconsin, Henk Granzier, University of Arizona, Aron Geurts, Medical College of Wisconsin, David Stowe, Medical College of Wisconsin, Blake Hill, Medical College of Wisconsin, Michael Lawlor, Medical College of Wisconsin

Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. Despite multiple genes and known mutations, the genetic heterogeneity of NM is not predictive of disease course. This suggests that unidentified secondary mechanisms exist that impact disease severity. We hypothesize that the common pathological endpoint of nemaline rods (despite diverse genetic causes) and unexplained range of muscle weakness suggest that shared secondary processes contribute to the pathogenesis of NM. We speculate that these processes can be identified through a proteome wide interrogation of a severe mouse model of NM in combination with pathway validation and structural and functional analyses. Proteomic analysis was performed on the Neb cKO mouse model in comparison to their wild-type counterpart to identify pathophysiologically relevant biological processes that may impact disease severity or provide new treatment targets. A differential expression analysis and Ingenuity Pathway core analysis predicted perturbations in several cellular processes including mitochondrial dysfunction and changes in energetic metabolism and stress-related pathways. Subsequent structural and functional studies have demonstrated abnormal mitochondrial placement, decreased respiratory function, and extremely low ATP content in Neb cKO muscles relative to wild type. Overall, our findings support a role for mitochondrial dysfunction as a novel contributor to muscle weakness in NM.