TLDR New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
Birt–Hogg–Dubé (BHD) syndrome is a genetic disorder marked by skin lesions, lung cysts, and kidney tumors, linked to mutations in the FLCN gene. Research revealed that FLCN acts as a tumor suppressor and interacts with pathways like mTOR and AMPK, crucial for cell growth and metabolism. Animal models showed that mTOR pathway activation due to FLCN inactivation could be mitigated by rapamycin, suggesting therapeutic potential. The study underscored the importance of genetic testing and personalized medicine, highlighting that targeted therapies, including mTOR inhibitors, could improve outcomes for BHD patients.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
81 citations,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
September 2023 in “Frontiers in medicine” The mTOR signaling pathway is crucial for hair health and targeting it may lead to new hair loss treatments.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
