A role for FLCN in mitochondrial function

The Warburg effect, as discussed in the last blog post, describes the dependency of cancerous cells on glycolysis for energy production, rather than mitochondrial oxidative phosphorylation. Warburg also postulated that cancer should in fact be interpreted as a mitochondrial disease, perhaps explaining the observed changes in metabolic state seen in these cells. As our understanding … Read more

BHD syndrome and the Warburg Effect

Last week Vicki introduced a paper by Preston et al. that showed that Folliculin also influences hypoxia-inducible factor (HIF) signalling. This pathway regulates a myriad of different genes that are involved in angiogenesis, erythropoiesis, cell survival and metastasis- so it is completely conceivable that it has a significant role to play in the development of … Read more

HIF signalling joins the BHD network

Now we’ve been introduced, I thought I’d draw your attention to a recently published paper that has confirmed and expanded our understanding of the pathogenic mechanisms underlying BHD syndrome. As Duncan mentioned in earlier posts, BHD syndrome shares some phenotypic similarities with other rare diseases, such as HLRCC, TSC and VHL disease. Hypoxia-inducible factor (HIF) … Read more

The Third International BHD Symposium … and us!

Many apologies for the break in posting – we’ve had a change of guard at the Myrovlytis Trust. Duncan has moved on to coordinate the development of the Lung Research Wales Research Portfolio, and Vicki and I have recently joined the Trust. You’ll be hearing from us in the future, but to give you guys … Read more