A gene is a set of instructions to build a protein, and it is proteins that do all the work in a cell. Everyone has two copies of each gene – one from their mother, one from their father.
BHD patients have a mutation in one of their two Folliculin genes, which stops that copy from being able to make a fully working Folliculin protein. This means that people with BHD can only make half the amount of Folliculin protein as someone without BHD.
In 2012, researchers from the University of Cambridge discovered that part of the Folliculin protein looks like this:
From looking at this structure, the researchers thought Folliculin might have a role in trafficking other proteins to where they need to be in the cell in order to do their job.
For example, Folliculin seems to be important in getting cell-adhesion proteins to the surface of the cell. Cell adhesion proteins help cells stick to one another, which allows tissues and organs to form. When Folliculin is missing from certain cells, this seems to stop cells being able to stick to one another normally and seem to stick to each other too tightly, or not tightly enough.
Publication date: December 2014
Review date: December 2017