My last post revealed an ‘original’ cell signalling pathway issued on bhdsyndrome.org, showing how folliculin has been hypothesised to interact with the mTOR pathway, alongside several other proteins known to cause other genetic disorders.
It was titled ‘Putting folliculin on the map’ but on reflection it seems more like a rogues gallery! Why? Mutations in FLCN, NF1, LKB1, PTEN, TSC1/TSC2 and VHL cause BHD, neurofibromatosis, Peutz-Jeghers, Cowden’s syndrome, Tuberous Sclerosis and VHL disease respectively. Since all these other syndromes have been characterised more significantly than BHD, it might be useful to perform a case by case comparison of the molecular biology of each syndrome to see if this can shed any light on the function of folliculin. The first of these will be coming soon…so watch this space.