Your Resource for Birt-Hogg-Dubé Syndrome
2013 has been a busy year for BHD research, and with 2014 around the corner, it seems a good point to review the studies we’ve particularly enjoyed writing about, and to revisit emerging themes. Early in the year, FLCN’s role in apoptosis and the cell cycle were a prominent theme on the blog. In January … Read more
UV rays in sunlight cause DNA damage and sun exposure is a major risk factor in most skin cancers. A recent study from Harvard suggests that sun exposure may also worsen the number and severity of skin lesions found in tuberous sclerosis patients (Tyburczy et al., 2013) Tuberous sclerosis complex (TSC) is an autosomal dominant … Read more
BHD-associated kidney cancers are thought to arise from somatic mutation of the remaining wild type allele of the BHD gene, FLCN, meaning that tumours are genetically distinct from surrounding tissue (Vocke et al., 2005). The phenomenon of synthetic lethality describes the situation where inhibiting a gene, by mutation or with a drug, is lethal to … Read more
All nerve cells are encased in sheath of myelin, which supports cells and acts as an electrical insulator allowing signals to be transmitted along the length of the axon (Hartline, 2008). Myelination of nerve cells usually starts during foetal development, and continues throughout childhood and adolescence (Paus et al., 1999). Loss of myelin can cause … Read more