Congenital myopathies – skeletal muscle diseases related to disorder of actin filament structure and functions
Journal Title: Advances in Hygiene and Experimental Medicine - Year 2011, Vol 65, Issue 0
Abstract
Congenital myopathies are clinically and genetically heterogeneous disorders characterized by muscle structural abnormalities, muscle weakness and deformities. The clinical spectrum of the disease ranges from severe cases with early death to adult-onset cases with slow progression. In the skeletal muscle fibers, the specific structural changes are rod-shaped structures present in the sarcoplasm (nemaline myopathy – NM) or nuclei (intranuclear rod myopathy – IRM), cap-like structures peripherally located within muscle fibers (cap disease – CD), accumulations of actin filaments (actin myopathy – AM), changes in the fiber type proportion and size (congenital fiber type disproportion – CFTD), irregularity of Z-lines and abnormal localization of myofiber nuclei. Mutations in several genes encoding muscle proteins have been linked to congenital myopathy. These genes include -skeletal actin ([i]ACTA1[/i]), tropomyosin ([i]TPM2[/i] and [i]TPM3[/i]), troponin ([i]TNNT1[/i]) and nebulin ([i]NEB[/i]). [i]In vitro[/i] and [i]in vivo[/i] studies show that mutations identified within these genes have varying impacts on thin filament protein structure, which affect polymerization and stabilization of actin filament, actin cellular localization and regulation of actin-myosin activity. Many lines of evidence suggest that mutated proteins have “toxic” effects. Unfortunately, there is no existing simple correlation between the degree of protein disruption, muscle pathologies and disease severity.
Authors and Affiliations
Katarzyna Robaszkiewicz, Joanna Moraczewska
Keywords
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