Tuberous sclerosis complex: a brave new world?
Tuberous sclerosis complex: a brave new world?
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DOI：
10.1097/wco.0b013e32832c4ff5
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发表时间：
2010-04-01
影响因子：
4.8
通讯作者：
Ess, Kevin C.
中科院分区：
文献类型：
--
作者：
Ess, Kevin C.
综述目的：多发性硬化症（TSC）是一种由TSC 1或TSC 2基因突变引起的多器官遗传性疾病。TSC多年来一直被认为是严重神经系统疾病的重要原因，患者患有癫痫、发育迟缓、自闭症和精神问题。在过去的一年中，有巨大的进步，在基础和翻译研究有关TSC。最近的findingsIn这篇综述中，我讨论的基础科学发现，定位的TSC 1和TSC 2基因的哺乳动物靶雷帕霉素激酶的哺乳动物靶内的雷帕霉素复合物1的关键调节剂。此外，我将讨论新的动物模型，翻译数据的发展，以及最近的临床试验，使用哺乳动物的雷帕霉素复合物1抑制剂的目标，如rapamycin.SummaryThe过去几年已经看到了壮观的进步，激发了TSC相关的研究和挑战现有的对症治疗。尽管使用雷帕霉素复合物1抑制剂的哺乳动物靶标是否会彻底改变TSC患者的护理还有待观察，但将基础和转化研究应用于特定的临床疾病强调了分子医学的潜力和前景。
Purpose of reviewTuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by mutations in the TSC1 or TSC2 genes. TSC has been recognized for many years as an important cause of severe neurological disease with patients suffering from epilepsy, developmental delay, autism, and psychiatric problems. During the last year, there have been enormous advances in basic and translational research pertaining to TSC.Recent findingsIn this review, I discuss the basic science findings that position the TSC1 and TSC2 genes as critical regulators of the mammalian target of rapamycin kinase within mammalian target of rapamycin complex 1. In addition, I will discuss the development of new animal models, translational data, and recent clinical trials using mammalian target of rapamycin complex 1 inhibitors such as rapamycin.SummaryThe past few years have seen spectacular advances that have energized TSC-related research and challenged existing symptomatic treatments. Although it remains to be seen whether use of mammalian target of rapamycin complex 1 inhibitors will revolutionize the care of patients with TSC, the application of basic and translational research towards a specific clinical disorder emphasizes the potential and promise of molecular medicine.