Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities

    January 2016 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Hassan Vahidnezhad, Leila Youssefian, Jouni Uitto
    TLDR 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.
    The document discussed the molecular genetics of the PI3K-AKT-mTOR pathway in genodermatoses, emphasizing its diagnostic implications and treatment opportunities. It highlighted the complexity of the pathway and its role in heritable diseases characterized by tissue overgrowth, such as CLOVES syndrome, Proteus syndrome, and others. Mutations in genes like PIK3CA, AKT1, and PTEN were linked to these conditions, leading to uncontrolled cell growth. The study underscored the importance of genetic testing for accurate diagnosis and the potential for targeted therapies, including the use of topical rapamycin for angiofibromas in tuberous sclerosis. The findings pointed to new treatment avenues with PI3K, AKT, and mTOR inhibitors under development and clinical trials.
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