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

Studysummary This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results. Our plain-language summary of this paper — not a Tressless recommendation.

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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Research cited in this study

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research Folliculin Encoded by the BHD Gene Interacts with a Binding Protein, FNIP1, and AMPK, and Is Involved in AMPK and mTOR Signaling

475 citations , October 2006 in “Proceedings of the National Academy of Sciences”

This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.