Huntington's disease belongs to a class of inherited neurological disorders that are caused by the presence of a polyglutamine expansion in apparently unrelated proteins. In Huntington's disease, expansion occurs in the huntingtin protein. Together with the characteristic formation of aggregates in the diseased state, several post-translational modifications affect huntingtin during the pathological process and lead to the dysfunction and eventual death of selective neurons in the brain of patients. These mechanisms are not completely described but could involve the gain of a new toxic function as well as the loss of the beneficial properties of huntingtin.
La maladie de Huntington est une maladie neurodegenerative causee par une expansion anormale de glutamines dans la sequence d'une proteine cible, la huntingtine. Au cours du developpement de la maladie, la huntingtine forme des agregats caracteristiques et subit differentes modifications post-traductionnelles. L'ensemble de ces evenements conduit a la dysfonction et eventuellement a la mort de neurones specifiques du systeme nerveux central. Ces mecanismes ne sont pas entierement compris mais pourraient impliquer a la fois un gain de nouvelles proprietes toxiques liees a l'expansion de glutamines dans la huntingtine ainsi qu'une perte de la fonction anti-apoptotique de la huntingtine.