Unveiling the role of glutamate in dopamine transporter deficiency syndrome

Dopamine Transporter Deficiency Syndrome (DTDS) is a rare genetic disease affecting children brain. These children present very severe and disabling motor symptoms appearing from early infancy and worsening throughout childhood. At present, no effective treatments are available for this disorder. Our research consortium has multi-year experience in the study of a genetically modified mouse model lacking the dopamine transporter, the same protein found to be defective in DTDS patients. Certain population of these mutants features major symptoms found in children with DTDS, thus providing excellent experimental tool for development of new drug treatments and gene therapy approaches to treat this disorder. By using these, as well as in vitro istem cell models reproducing DTDS mutations, we will study pathological mechanisms, development of symptoms and identify potential new treatments of this syndrome.