Myopathies Congénitales

mardi 26 mars 2019
26-AM-Parallel-1 11h00 > 12h30 Myopathies Congénitales Amphi A

11h00 S03-01 Modulation of amphiphysin and dynamin rescues severe congenital myopathies > J. Jocelyn LAPORTE (Illkirch, France) 11h30 S03-02 > H. Heinz JUNGBLUTH (London, United Kingdom) 12h00 S03-03 > C. Coen Ac OTTENHEIJM (Amsterdam, Netherlands)
Objectifs : Causes of many myopathies remain unresolved and succesfull treatment strategies are scarce. A prime example of an unresolved, but life-threatening muscle disease is nemaline myopathy.
In muscle cells, the contractile machinery is arranged into sarcomeres, a system of interdigitating thin and thick filaments. Where the thick filament is mainly composed of myosin, the thin filament is composed of an actin backbone decorated with regulatory proteins, such as troponin, tropomyosin and the giant protein nebulin. It is this thin filament that is implicated in nemaline myopathy.
Mutations in twelve genes have been indicated to play a role, all genes encoding proteins that are either components of the thin filament or are thought to contribute to stability or turnover of thin filament proteins. It is therefore, that nemaline myopathy is considered a ‘thin filament myopathy’.
These mutations in thin filament proteins, together with the crucial role of the thin filament in muscle function, raise the question: is the functioning of the thin filament affected in nemaline myopathy, and if so, how ? Only in recent years this question has been addressed, and many important ones have yet to be answered.
Understanding the genotype-phenotype correlations in nemaline myopathy is important, as it allows for the development of genotype-targeted treatment strategies.

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