Studies have shown that VHL syndrome severely increases the risk of malignant as well as benign tumors. Kidney cancer induced by VHL syndrome has a poor prognosis, and only 12 percent of individuals affected by the disease survive beyond five years from the time of diagnosis.
Susanne Schlisio, an associate professor at the Department of Microbiology, Tumor and Cell Biology, and her team at the Karolinska Institutet studied the protein content of cancerous cells induced due to VHL syndrome and those in another group of individuals who also have a mutation in the VHL gene but at a different location. Called Chuvash, this other mutation also results in a lack of oxygen-like disorder but does not lead to tumor development.
The difference between the two was the number of mitochondria in the cells. While VHL syndrome resulted in low mitochondrial numbers, the Chuvash mutation did not drop the number of mitochondria in the cells. It is well known that mitochondria in the cells utilize oxygen to make energy. However, it is not understood how they adjust to low-oxygen environments and the role in play in the resistance to cancer treatments.