Tuberous sclerosis complex (TSC) is a rare genetic disease, which is characterized by noncancerous tumors in multi-organ systems in the body. Mutations in the TSC1 or TSC2 genes are known to cause the disease. The resultant mutant proteins TSC1 (hamartin) and TSC2 (tuberin) complex evade its normal tumor suppressor function, which leads to abnormal cell growth and proliferation. Both TSC1 and TSC2 are involved in several protein-protein interactions, which play a significant role in maintaining cellular homeostasis. The recent biochemical, genetic, structural biology, clinical and drug discovery advancements on TSC give a useful insight into the disease as well as the molecular aspects of TSC1 and TSC2. The complex nature of TSC disease, a wide range of manifestations, mosaicism and several other factors limits the treatment choices. This review is a compilation of the course of TSC, starting from its discovery to the current findings that would take us a step ahead in finding a cure for TSC.

结节性硬化症（TSC）是一种罕见的遗传疾病，其特征是体内多器官系统中的非癌性肿瘤。已知TSC1或TSC2基因中的突变会导致该疾病。产生的突变蛋白TSC1（哈马汀）和TSC2（管蛋白）复合物逃避了其正常的肿瘤抑制功能，从而导致异常的细胞生长和增殖。TSC1和TSC2都参与了几种蛋白质间相互作用，在维持细胞稳态方面起着重要作用。TSC的最新生化，遗传，结构生物学，临床和药物发现进展为该疾病以及TSC1和TSC2的分子方面提供了有用的见识。TSC疾病的复杂性，广泛的表现，镶嵌现象和其他一些因素限制了治疗的选择。