Myopathies Congénitales

Tuesday, March 26, 2019
26-AM-Parallel-1 11:00 AM > 12:30 PM Myopathies Congénitales Amphi A

11:00 AM S03-01 Modulation of amphiphysin and dynamin rescues severe congenital myopathies > J. Jocelyn LAPORTE 11:30 AM S03-02 The expanding phenotypical spectrum of RYR1-related neuromuscular disorders > H. Heinz JUNGBLUTH 12:00 PM S03-03 Sarcomere contractility in nemaline myopathy > C. Coen Ac OTTENHEIJM
Objectives : 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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