Cells and animal models are invaluable to curing disease, and without them we wouldn’t have the polio vaccine or chemotherapy.
Researchers have developed several different “disease models” of BHD:
- UOK-257 cells: These cells were originally a sample taken from a BHD patient’s kidney tumour.
- Budding yeast: This yeast strain has a mutation in the yeast version of the Folliculin gene, BHD1.
- Nematode worm: These worms have a mutation in the flcn-1 gene, and have been shown to have higher tolerance to stress, such as high temperature and low oxygen. One study found that these worms also live longer than normal worms.
- Fruit fly: These flies lack both copies of their Folliculin gene. They appear to stop developing and die as larvae, which is thought to be due to reduced mTOR activity.
- Mouse: There are seven different mouse models for BHD with different mutations in the mouse version of the FLCN gene. All of these models develop renal cysts or tumours, similarly to BHD patients.
- Rat: Like the mouse models, these rats are predisposed to developing kidney tumours.
- Dog: Some German Shepherds were found to develop skin nodules and kidney tumours. Researchers later found that these dogs had a mutation in their Folliculin gene. Unlike all of the other animal models, these dogs’ mutation occurred naturally and they were not genetically engineered. To date, these dogs have not been used in any experiments.
Publication date: December 2014
Review date: December 2017