Background: The term myofibrillar myopathy refers to a rare and clinically heterogeneous group of muscle disorders. The pathogenesis of this myopathy is not well understood. The morphologic hallmark is myofibrillar destruction with abnormal expression of numerous proteins, most consistently of desmin. Methods: The authors investigated eight patients with myofibrillar myopathy belonging to four families. They studied the role of different protein kinase C isoforms and of interleukin-1β, a cytokine that might activate protein kinase C and, in addition, mediate myofibrillar proteolysis. Results: Immunohistochemical analysis showed the expression of α, η, and ζ isoforms of protein kinase C and of interleukin-1β in abnormal muscle fibers. Immunoblots confirmed the immunohistochemical data and revealed the absence of protein kinase C δ and ε in muscle fibers from patients and controls. Conclusions: These data suggest that protein kinase C and interleukin-1β may play a role in the pathogenesis of myofibrillar myopathy.
Expression of protein-kinase C isoforms and interleukin-1β in myofibrillar myopathy
Filosto M.;
2004-01-01
Abstract
Background: The term myofibrillar myopathy refers to a rare and clinically heterogeneous group of muscle disorders. The pathogenesis of this myopathy is not well understood. The morphologic hallmark is myofibrillar destruction with abnormal expression of numerous proteins, most consistently of desmin. Methods: The authors investigated eight patients with myofibrillar myopathy belonging to four families. They studied the role of different protein kinase C isoforms and of interleukin-1β, a cytokine that might activate protein kinase C and, in addition, mediate myofibrillar proteolysis. Results: Immunohistochemical analysis showed the expression of α, η, and ζ isoforms of protein kinase C and of interleukin-1β in abnormal muscle fibers. Immunoblots confirmed the immunohistochemical data and revealed the absence of protein kinase C δ and ε in muscle fibers from patients and controls. Conclusions: These data suggest that protein kinase C and interleukin-1β may play a role in the pathogenesis of myofibrillar myopathy.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
