Month: January 2014

Autophagy is the process through which cells recycle proteins and organelles for energy, and is often dysregulated in kidney cancers. A recent study shows that autophagy is increased in FLCN-null renal carcinoma cells, and that these cells are more sensitive to irradiation (IR) than FLCN-expressing counterparts. Zhang et al. (2014) assessed the survival of a … Read more

In 2012, two separate studies reported that FLCN interacts with Plakophilin4 (PKP4) to regulate RhoA signalling and cell-cell adhesion. PKP4, together with Ect2, interacts with RhoA to regulate Rho signalling, contractile ring formation and contraction, and actin reorganisation during cell division (Keil et al., 2007; Keil et al., 2009; Wolf et al., 2006). PKP4 is … Read more

Lung cysts are a highly penetrant symptom of BHD Syndrome, affecting up to 90% of patients, yet the mechanism of how they develop remains unclear. The histology, appearance and location of lung cysts seem to be disease specific, allowing clinicians to distinguish BHD from other cystic lung diseases based on radiological findings, suggesting that the … Read more

Uterine leiomyomas, or fibroids, are benign smooth muscle tumours that grow in the womb. In many cases, uterine fibroids are asymptomatic, although can cause heavy bleeding, lower back pain and complications during pregnancy and labour in some cases. Most women with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, caused by mutations in the FH … Read more

While autosomal dominant mutation of causative genes are known to cause the kidney cancer predisposition syndromes HLRCC, TSC, VHL and BHD, a number of studies suggest that compound heterozygous and mosaic mutations of these genes may also contribute to disease. Biallelic mutations in the HLRCC gene FH, whether due to homozygosity or compound heterozygosity, cause … Read more