Brooks D A
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
FEBS Lett. 1997 Jun 9;409(2):115-20. doi: 10.1016/s0014-5793(97)00423-7.
Genetic diseases associated with an enzyme deficiency frequently have reduced intracellular levels of the mutant protein, despite apparently normal levels of message and protein synthesis. It has been suggested that the endoplasmic reticulum (ER) can recognise mutant protein as incorrectly folded and invoke 'quality control' processes which cause the retention and degradation of this protein. This process may occur, even for mutations which do not abrogate protein activity, contributing directly to pathophysiology. Genetic diseases associated with defects in ER and Golgi processing proteins have also been reported and generally result in impaired processing of multiple protein products. In this review the role of the ER and Golgi in the pathogenesis of genetic diseases relating to the vacuolar network are discussed.
与酶缺乏相关的遗传疾病，尽管其信息和蛋白质合成水平看似正常，但细胞内突变蛋白的水平常常降低。有人提出，内质网（ER）能够识别错误折叠的突变蛋白，并启动“质量控制”过程，导致该蛋白被滞留和降解。即使是那些不会消除蛋白质活性的突变，这个过程也可能发生，直接导致病理生理学变化。与内质网和高尔基体加工蛋白缺陷相关的遗传疾病也有报道，通常会导致多种蛋白质产物的加工受损。在这篇综述中，我们将讨论内质网和高尔基体在与液泡网络相关的遗传疾病发病机制中的作用。
