Research Fellows Directory
Maria Eugenia Fernandez-Suarez
Dr Maria Eugenia Fernandez-Suarez
University of Oxford
Lysosomal storage diseases are individually rare but collectively quite common. They are characterized by the abnormal accumulation of products in the part of the cell responsible for waste disposal and recycling of molecules, the lysosome. One of the nearly 70 lysosomal storage disorders known to date is Niemann-Pick Type C disease (NPC). This rare inherited neurodegenerative disease is caused by a defect in lipid movement within cells and results in cognitive impairment, ataxia, dementia and premature death, most often in childhood.
NPC is caused by mutations in two different genes called NPC1 and NPC2. These genes code for the NPC1 and NPC2 proteins, located in the membrane and inside the lysosome respectively. Currently, the precise function of NPC1 is unknown, but when it is dysfunctional a fatty molecule called sphingosine accumulates in lysosomes. This leads to a change in calcium levels in the lysosome that blocks movement within the cell causing the secondary accumulation of other fatty molecules called sphingolipids and cholesterol.
Our goal is to identify the proteins NPC1 interacts with and whether this interaction depends on cholesterol binding to NPC1.
This study will contribute to the understanding of the basis of NPC disease, which could open new avenues for alternative and more effective treatments for this disorder. Moreover, the knowledge of the molecules and processes that take place in the lysosome will shed light on common features of lysosomal storage disorders, on the mechanisms of infection of some viruses like Ebola and on Parkinson's disease, Alzheimer's and inflammatory conditions in which the lysosome is involved.
Interests and expertise (Subject groups)