Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies

October 2012 in “ Familial cancer ”

Laura S. Schmidt

Birt–Hogg–Dubé syndrome FLCN gene mTOR pathway AMPK pathway rapamycin genetic testing personalized medicine mTOR inhibitors BHD syndrome

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.

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