Month: May 2014

A study recently published in the Journal of Clinical Investigation draws together a number of earlier observations of how FLCN functions: that FLCN binds AMPK via the FNIPs, that loss of FLCN leads to HIF hyperactivity and metabolic transformation, and that loss of FLCN leads to increased PGC1a expression and consequent mitochondrial activity. This study … Read more

As discussed on this blog previously, dysregulated autophagy seems to be a common feature of many hereditary kidney cancers. A study from Professor Arnim Pause’s laboratory at McGill University in Canada has shown that the loss of FLCN leads to constitutive activation of AMPK, which stimulates autophagy and stress resistance in both C. elegans and … Read more

Roughly 90% of BHD patients develop lung cysts, which are thought to also cause spontaneous pneumothorax in 1 in 4 BHD patients (Houweling et al., 2011, Predina et al., 2011). However, although lung cysts are a highly penetrant symptom of BHD, how losing one copy of the FLCN gene causes cysts to develop is currently … Read more

Lysosomes are enzyme-containing organelles that break down macromolecules in order to recycle their components and maintain cellular homeostasis. Lysosome dysfunction can cause an array of diseases, including Gaucher’s Disease, Niemann Pick Disease and even some cancers (Appelqvist et al., 2013). A number of recent studies suggest that the lysosome may be central to the development … Read more

Genetic anticipation describes the phenomenon where symptoms appear at an earlier age or are more severe, or both, in subsequent generations of families with a genetic disease. This phenomenon is commonly seen in neurodegenerative diseases (Trottier et al., 1994), and in some hereditary cancers including breast, ovarian and pancreatic cancer (Dagan and Gershoni-Baruch, 2002, Martinez-Borges … Read more