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

August 2022 in “ International Journal of Molecular Sciences ”

Clara Bernardelli, Eloisa Chiaramonte, Silvia Ancona, Silvia Maria Sirchia, A. Cerri, Elena Lesma

TSC2-/meth cells tuberin follicular neogenesis mTOR hyperactivation 5-azacytidine chromatin remodeling agents

Studysummary This study demonstrated that 5-azacytidine treatment may reduce TSC lesion-related hair follicles in mice, suggesting chromatin remodeling agents could be effective for tuberous sclerosis cutaneous lesions lacking tuberin.

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The study demonstrated that primary TSC2-/meth cells, which lack tuberin due to an epigenetic event, induced follicular neogenesis and cutaneous lesions in a TSC mouse model. These cells showed high mTOR activity and localized in hair bulbs, leading to skin thickening and hair growth. Treatment with 5-azacytidine reduced hair follicles and decreased mTOR activity, suggesting its potential effectiveness on TSC lesions. Additionally, TSC2-/meth cells exhibited metastatic capabilities, migrating to the lungs and causing tissue changes. This model provided insights into the role of mTOR in TSC-related skin and hair manifestations and highlighted the potential of targeting epigenetic silencing for treatment.

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