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Aurora magazine

Scientists identify the genetic basis of myopathy

A research led by Professor Philip Ingham showed the genetic basis of myopathy, a muscle disease. To carry out the study, scientists used zebrafish as a model for the disease. In this way, they made an important step forward in the struggle of a still unknown disease.

Myopathies are diseases that affect muscle fibers and cause weakness. To date there is no treatment, as myopathies can develop in several ways. A particular type is non-metallic myopathy. It mainly affects skeletal muscles and makes it difficult to nourish itself. Subjects who suffer from it have mutations in the MYO18B gene, but not the role of these so far unknown.

The researchers used high-resolution genetic analysis to create a MYO18B model in zebrafish. These tropical fish have in fact 70% of the genes in common with the human being. This makes them simplified models of the human genome.

The analysis showed that MYO18B is active especially in skeletal muscles with fast contraction fibers. It also has an essential role in the bond between actin and myosin filaments, which allow muscle fibers to contract. Abnormalities in the gene interfere with all these functions and are crucial to the development of myopathy.

The discovery will help to better understand the genesis of the disease, so that new treatments and genetic testing can be developed.