Key result
Proteomic analysis of HIBM muscle reveals ~30% of altered proteins involve cytoskeleton and sarcomere organization.
Case-Control (n=12)
Proteomic profiling of HIBM reveals altered expression of proteins involved in cytoskeleton and sarcomere organization, suggesting a novel function of GNE in the muscle filamentous apparatus.
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May implicate GNE in sarcomere integrity; hypothesis-generating for cytoskeletal mechanisms in HIBM, no clinical implications yet.
Sela et al. (2011) conducted a case-control in Hereditary Inclusion Body Myopathy (HIBM) (n=12). Hereditary Inclusion Body Myopathy (GNE mutation) vs. Healthy matched controls was evaluated on Differentially expressed proteins in muscle cultures and biopsies. Proteomic analysis of HIBM muscle cultures and biopsies revealed that the most robust cluster of differentially expressed proteins (30%) was assigned to cytoskeleton and sarcomere organization.
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