From the Department of Biochemical Sciences, Sapienza University of Roma, Roma, Italy.
Center for Behavioral Sciences and Mental Health, Istituto Superiore di Sanità, Roma, Italy.
J Neuropathol Exp Neurol. 2021 Feb 22;80(3):265-273. doi: 10.1093/jnen/nlaa158.
Rett syndrome (RTT) is a rare neurological disorder caused by mutations in the X-linked MECP2 gene, characterized by severe behavioral and physiological impairments for which no cure is available. The stimulation of serotonin receptor 7 (5-HT7R) with its selective agonist LP-211 (0.25 mg/kg/day for 7 days) was proved to rescue neurobehavioral alterations in a mouse model of RTT. In the present study, we aimed at gaining insight into the mechanisms underpinning the efficacy of 5-HT7R pharmacological stimulation by investigating its epigenetic outcomes in the brain of RTT female mice bearing a truncating MeCP2 mutation. Treatment with LP-211 normalized the reduced histone H3 acetylation and HDAC3/NCoR levels, and increased HDAC1/Sin3a expression in RTT mouse cortex. Repeated 5-HT7R stimulation also appeared to strengthen the association between NCoR and MeCP2 in the same brain region. A different profile was found in RTT hippocampus, where LP-211 rescued H3 hyperacetylation and increased HDAC3 levels. Overall, the present data highlight a new scenario on the relationship between histone acetylation and serotoninergic pathways. 5-HT7R is confirmed as a pivotal therapeutic target for the recovery of neuronal function supporting the translational value of this promising pharmacological approach for RTT.
雷特综合征(RTT)是一种由 X 连锁 MECP2 基因突变引起的罕见神经发育障碍,其特征是严重的行为和生理障碍,目前尚无治愈方法。用其选择性激动剂 LP-211(每天 0.25mg/kg,连续 7 天)刺激 5-羟色胺受体 7(5-HT7R)已被证明可挽救 RTT 小鼠模型中的神经行为改变。在本研究中,我们旨在深入了解 5-HT7R 药理学刺激的疗效机制,通过研究携带截断 MeCP2 突变的 RTT 雌性小鼠大脑中的表观遗传结果来研究其疗效机制。LP-211 治疗可使 RTT 小鼠皮层中的组蛋白 H3 乙酰化和 HDAC3/NCoR 水平降低以及 HDAC1/Sin3a 表达增加恢复正常。5-HT7R 的重复刺激似乎也加强了同一脑区 NCoR 和 MeCP2 之间的关联。在 RTT 海马体中发现了不同的情况,LP-211 可挽救 H3 过度乙酰化并增加 HDAC3 水平。总的来说,本数据强调了组蛋白乙酰化和 5-羟色胺能途径之间的新关系。5-HT7R 被确认为恢复神经元功能的关键治疗靶点,支持了这种有前途的药理学方法在 RTT 中的转化价值。