05/02 - RGD publishes an interactive diagram page for the Huntington disease pathway

Huntington disease pathway

Huntington disease (HD) is an autosomal dominant neurodegenerative condition involving motor, cognitive and psychiatric symptoms. HD is associated with the abnormal expansion of a trinucleotide (CAG) repeat in the huntingtin (HTT) gene translating into an expanded stretch of glutamine residues (polyQ). The length of polyQ partially links to the onset of the condition; death occurs ~20 years after the onset. HTT is a very large protein and its interacting partners are involved in numerous cellular pathways and processes, though the actual function of HTT is still elusive. Click here to explore the various aspects of HTT/mutant HTT function and dysfunction and the possible impacts on the fate of dorsal striatal neurons, selectively lost in HD.