- Huntington’s Disease
Huntington’s disease (HD) is an autosomal dominant genetic disease that gives rise to neurological degeneration inducing marked motor and cognitive disorders and, in the most serious forms, loss of independence and ultimately death. The disease usually emerges in patients aged 40 to 50 years. The disease is rare with a stable prevalence of between 5 and 7 patients per 100,000 people in Caucasian populations.
- Alzheimer’s Disease
Alzheimer’s disease (AD) is a progressive and irreversible neurodegenerative disease that constitutes the most common form of dementia in the elderly. There are currently 35 million patients worldwide and the number is scheduled to increase to 115 million in 2050.
The early phases of the disease are characterized by a cognitive deficit which exacerbates with disease progression. The severe phase of the disease is characterized by behavioral disorders and the inability to implement the simplest acts of everyday life. Patients ultimately become completely dependent and then confined to bed. Death occurs 8 to 10 years post-diagnosis.
- Cholesterol metabolism is impaired in those two diseases
Cholesterol metabolism is impaired in neurodegenerative diseases, namely HD and AD : CYP46A1, a key enzyme that converts the excess cholesterol, is lacking in the brain of patients, inducing a toxic accumulation of cholesterol and the slow down of the whole cholesterol synthesis pathway. We demonstrated that overexpress CYP46A1 in AD and HD mouses corrected behavioral and neuropathological abnormalities of AD and HD.