Primary TSC2-Deficient Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

    Clara Bernardelli, Eloisa Chiaramonte, Silvia Ancona, Silvia Maria Sirchia, A. Cerri, Elena Lesma
    TLDR TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
    The study demonstrated that primary TSC2-/meth cells, which lack tuberin due to an epigenetic event, induced cutaneous lesions and follicular neogenesis when injected into nude mice. These tuberin-null cells were found in hair bulbs and alongside mature hairs, showing mTOR hyperactivation. Treatment with 5-azacytidine reduced hair follicles, suggesting that chromatin remodeling agents could be effective for TSC lesions. Additionally, the TSC2-/meth cells exhibited metastatic capabilities, invading the lungs and causing alveolar wall enlargement. This mouse model was considered ideal for studying disease progression and testing potential treatments.
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