2018 participants
Willhelmina Lucinescu
- Msci Biomedical Sciences
- The impact of patient mutations in Na/phosphate cotransporters to function and trafficking of the protein
Most of us consume foods such as eggs, milk and chocolate, but we do not think of the phosphate they provide and its big role in the body. It helps grow strong bones, energise the cells and is also a building block for cell membranes. The kidneys, which are known to filter everything that enters our blood, have to make sure important electrolytes such as phosphate are not lost with urine and thus use proteins that transport it from the blood back into the cells. This project aims to characterise how defects in the genes that code for these transporters lead to diseases, such as kidney stone formation, rackets and osteoporosis, because phosphate balance in the body is lost. Ultimately, I will be looking at how these defective proteins are different from normal transporters and their ability to take phosphate into the cells.
Funding source: Wellcome Trust
Supervisor: Dr Andreas Werner