Metabolism of polysialic acid: new insight into pathological mechanisms and potential treatments for Huntington’s disease

Huntington disease (HD) is rare fatal hereditary brain disorder with no effective cure available. The main purpose of this proposal is to characterize the role of specific sugar molecules, implicated in brain development and homeostasis. To this regard, we have the evidence that a specific sugar, called “polysialic acid” is reduced in HD. This reduction is usually deleterious for brain function, thus our project also aims at possible restoring such a defect. For the achievement of our objectives we will use multiple study models, including cells from human HD patients, that will be analysed by multiple multidisciplinary approaches. We believe that our proposal has the potential to provide some new insight into the pathogenic mechanisms underlying HD and, to make available new valuable therapeutic options for its treatment in the future.