Patients with Von Hippel-Lindau Syndrome (VHL) have a large risk of developing kidney cancer. Conversely, patients with cancer of the kidney often have an abnormality in the VHL gene. It would seem that this gene is important in kidney tumors. Martijn Lolkema studied how abnormalities of this gene lead to tumors. He found that VHL plays a key role in the formation and proper functioning of cilia, the cell’s “antennae.” These antennae are important in “feeling” the flow of urine in the kidney, and in this way regulate cell division and cell movement, among other things.
When these cilia don’t function properly, the renal tubules can turn into fluid-filled cavities known as cysts. Although kidney cysts are common, when they result from VHL abnormalities they are the forerunners of kidney cell cancer. By studying how an important gene like VHL keeps kidney tumors from forming, we can in future develop therapies that are specifically aimed at this defect in tumor cells.
Martijn Lolkema
Hypoxia Inducible Factor-independent functions for the Von Hippel-Lindau tumor suppressor gene
PhD advisor: Prof. E.E. Voest
Co-advisor: Dr. R.H. Giles