LAMININS AND THEIR RECEPTORS IN HEREDITARY NEUROPATHIES

Merosin-Deficient Congenital Muscular Dystrophy is a genetic disease due to a deficit of the laminin molecule in nerves and muscles. Normally laminin send signals inside nerve and muscle cells, to make them work properly. These signals are largely unknown. When laminin is defective these signals are missing and the cells don't work anymore, causing the disease. On one side we are discovering what the signals, absent in the disease, are, in order to activate them pharmacologically and cure the disease. On the other side, since nerves that control muscles are sick, we want to use an animal model of the disease to see if it sufficient to give laminin to nerves to cure the disease.