Molecular biology of the Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder that can cause benign skin tumours, cysts in various organs, a collapsed lung, and kidney tumours. As these symptoms also occur in the general population, an understanding of the pathogenesis is important for improving treatment. BHD is caused by a mutation in the FLCN gene, which codes for the protein folliculin. This dissertation demonstrates that a decrease in normal FLCN leads to a delayed production of the cilium, or antennae-like structure on the cell, and an increase in the activity of the signalling pathway involved in the adaption of cells to reduced oxygen. Furthermore, it slows the recycling system that breaks down old cell components.