Role of Huntingtin phosphorylation by Akt in HD

Huntington’s disease (HD) is a fatal neurodegenerative disorder that usually begins in mid-life and causes progressive loss of motor control and mental capacity. One in 10,000 Canadians has this untreatable and devastating inherited disease. The HD gene produces the huntingtin protein, a protective molecule found in all regions of the human brain. However, when the HD gene mutates, it causes specific nerve cells to degenerate. Simon Warby aims to identify the factors that enable this location-specific and age-dependent degeneration in the brain. An important enzyme called Akt regulates the protective functions of huntingtin. Simon is investigating whether alterations in this enzyme and reduced levels of a molecule called BDNF (brain derived neurotrophic factor) turn off huntingtin’s protective functions. The research could contribute to therapies for reversing the degenerative process that characterize Huntington disease.