DIVISIONE DI NEUROSCIENZE
The aim of the research
Demyelinating hereditary neuropathies are a group of rare disorders in which the defect is due to problems in the synthesis and maintenance of myelin, the fatty substance wrapped around the nerves.
These diseases are due to mutations in more than 70 genes and they result in muscle weakness, altered sensation and pain. These neuropathies can affect children, all members in a family, and in the most severe forms lifespan can be shortened. For all these reasons there is no effective treatment for this class of disorder and the study of the mechanisms controlling the synthesis of myelin is essential to identify novel avenues of intervention. We and other groups previously characterized an important growth factor that controls the formation of myelin in the nerves. We also recently showed that this growth factor is processed on the nerves by other proteins. These molecules act as "biological scissors" and their cleavage could either promote or inhibit the activity of this growth factor regulating myelin formation. In addition we also recently found that these "scissors" induce the expression of other molecules, called prostaglandins that promote myelin formation and maintenance in the nerves. By using a combination of cell culture techniques and in vivo animal models that allows us to study the molecular mechanisms regulating myelin formation, we will investigate how prostaglandins participate in the formation of myelin, and also whether they are important in remyelination. These studies should further elucidate the mechanisms controlling myelination in the nerves and could be relevant to develop new therapeutic strategies to promote remyelination in patients affected by hereditary peripheral neuropathies.