Tuberous sclerosis complex (TSC) represents a genetic condition, in which the clinical manifestations are caused by the disinhibition of the mammalian target of rapamycin (mTOR) pathway due to mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes. The deregulated mTOR activity leads to multi-site tumors, including subependymal giant cell astrocytoma (SEGA). SEGA is a brain tumor that affects around 15% of TSC patients. The aim of the study was to evaluate miR-21 expression in the serum of two groups of TSC patients: with or without SEGA tumors. We found no differences in the level of miR-21 depending on the presence of SEGA. Next, we studied the influence of prolonged rapamycin administration on miR-21 level in the blood serum of TSC patients (6-12 months of rapamycin) and in primary cultures of SEGA-derived cells treated with rapamycin in vitro. Here we show that rapamycin treatment leads to the upregulation of miR-21 in both patients' serum and in primary SEGA tumor cells in the culture indicating the regulatory relationship between rapamycin treatment and miR-21 expression.

中文翻译：

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结节性硬化症患者血清和室管膜下巨细胞星形细胞瘤 (SEGA) 衍生细胞培养物中雷帕霉素可上调 microRNA 21 的水平。

结节性硬化症 (TSC) 代表一种遗传病症，其临床表现是由哺乳动物雷帕霉素靶标 (mTOR) 通路因 TSC1（错构蛋白）或 TSC2（结核菌素）基因突变引起的去抑制引起的。mTOR 活性失调导致多部位肿瘤，包括室管膜下巨细胞星形细胞瘤 (SEGA)。SEGA 是一种脑肿瘤，影响大约 15% 的 TSC 患者。该研究的目的是评估 miR-21 在两组 TSC 患者血清中的表达：有或没有 SEGA 肿瘤。根据 SEGA 的存在，我们发现 miR-21 的水平没有差异。下一个，我们研究了延长雷帕霉素给药对 TSC 患者血清（6-12 个月雷帕霉素）和体外雷帕霉素处理的 SEGA 衍生细胞原代培养物中 miR-21 水平的影响。在这里，我们显示雷帕霉素治疗导致患者血清和培养物中原代 SEGA 肿瘤细胞中 miR-21 的上调，表明雷帕霉素治疗与 miR-21 表达之间的调节关系。