An invertebrate animal model of nemaline myopathy using Caenorhabditis elegans.
C. elegans with pathological mutations of tropomyosin that cause nemaline myopathy.
Nemaline myopathy, or rod myopathy, is a congenital and hereditary neuromuscular disorder that causes muscle weakness of varying severity. It can even be life-threatening in severe cases, but no effective therapy for nemaline myopathy has been developed. Tropomyosin, an actin-binding protein that stabilizes actin filament dynamics, has been identified as a nemaline myopathy gene that is involved in the pathogenesis of nemaline myopathy. Emory researchers have introduced pathological mutations in tropomyosin in C. elegans. This animal model can be used to test how these myopathy-causing mutations affect the functions of regulators of actin mechanics including other actin-binding proteins such as tropomodulin and cofilin. Research with this nematode model can provide new information concerning the pathogenesis of nemaline myopathy and insights into developing new therapeutics for the disease.