The Niemann-Pick-C disease (NPC) is a rare disease affecting 1 child in 100,000. The NPC normally manifest itself early in the patients by causing a degeneration of the neurones. The disease is caused by a mutation in either the gene Npc1 or Npc2 which induces a toxic cholesterol accumulation in the neurones.

Apolipoprotein D (apoD) is overexpressed in the cerebral zones that are the most touched by the disease. ApoD is a soluble neural protein which role is to transport small hydrophobic ligands, one of which is cholesterol. ApoD is implicated in the transport of lipids and enables the transfer of lipids from neurons to glial cells. Recent data from our laboratory also shows that apoD can escape the confines of the central nervous system (CNS) and accumulates in the liver and urine. This indicates that apoD could play a potential role in the recycling and excretion of its ligands.

Our objectives are to evaluates whether an overproduction of apoD in the CNS can attenuates the neuronal cholesterol accumulation by transporting the excess cholesterol outside of the neurones and the CNS and therefore increasing the longevity of mice afflicted by the NPC.

Name: Frédérik Desmarais, M.Sc
Supervisor: Catherine Mounier (UQAM)
Laureate: Doctoral scholarship 2018