de Vries Petrus J, Howe Christopher J
Developmental Psychiatry Section, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge, CB2 2AH, UK.
Trends Mol Med. 2007 Aug;13(8):319-26. doi: 10.1016/j.molmed.2007.06.003. Epub 2007 Jul 13.
Tuberous sclerosis complex (TSC) is a multi-system disorder associated with mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes. The neurocognitive features of TSC show wide variability and have generally been attributed to structural brain abnormalities and/or seizures. We review the fundamental roles of TSC1 and TSC2 in cell signalling and propose that because the hamartin-tuberin complex (hereafter referred to as TSC1-2) acts as a global regulator and integrator of a range of physiological processes ('GRIPP') the neurocognitive manifestations of TSC result directly from cell-signalling abnormalities. Under the GRIPP hypothesis, the spectrum of neurodevelopmental abnormalities is caused by the biochemical consequences of individual TSC1 and TSC2 mutations. Recognizing the importance of signalling disruption in the brain might improve our understanding of other neurocognitive disorders.
结节性硬化症(TSC)是一种多系统疾病,与TSC1(错构瘤蛋白)或TSC2(结节蛋白)基因的突变有关。TSC的神经认知特征表现出很大的变异性,通常归因于大脑结构异常和/或癫痫发作。我们回顾了TSC1和TSC2在细胞信号传导中的基本作用,并提出,由于错构瘤蛋白-结节蛋白复合物(以下简称TSC1-2)作为一系列生理过程的全局调节因子和整合因子(“GRIPP”),TSC的神经认知表现直接源于细胞信号异常。根据GRIPP假说,神经发育异常谱是由单个TSC1和TSC2突变的生化后果引起的。认识到大脑中信号破坏的重要性可能会增进我们对其他神经认知障碍的理解。