FIRC Institute of Molecular Oncology, 20139 Milan, Italy.
Center for Complexity and Biosystems, Department of Biosciences, University of Milano, via Celoria 26, 20133 Milano, Italy.
Sci Rep. 2017 Mar 3;7:43669. doi: 10.1038/srep43669.
Intraneural accumulation of misfolded proteins is a common feature of several neurodegenerative pathologies including Alzheimer's and Parkinson's diseases, and Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB). FENIB is a rare disease due to a point mutation in neuroserpin which accelerates protein aggregation in the endoplasmic reticulum (ER). Here we show that cholesterol depletion induced either by prolonged exposure to statins or by inhibiting the sterol reg-ulatory binding-element protein (SREBP) pathway also enhances aggregation of neuroserpin proteins. These findings can be explained considering a computational model of protein aggregation under non-equilibrium conditions, where a decrease in the rate of protein clearance improves aggregation. Decreasing cholesterol in cell membranes affects their biophysical properties, including their ability to form the vesicles needed for protein clearance, as we illustrate by a simple mathematical model. Taken together, these results suggest that cholesterol reduction induces neuroserpin aggregation, even in absence of specific neuroserpin mutations. The new mechanism we uncover could be relevant also for other neurodegenerative diseases associated with protein aggregation.
错误折叠的蛋白质在神经内积累是几种神经退行性疾病的共同特征,包括阿尔茨海默病和帕金森病,以及伴有神经丝氨酸蛋白酶包涵体的家族性脑腱黄瘤病(FENIB)。FENIB 是一种罕见的疾病,由于神经丝氨酸蛋白酶中的一个点突变,导致内质网(ER)中蛋白质聚集加速。在这里,我们表明,通过长时间暴露于他汀类药物或抑制固醇调节结合元件蛋白(SREBP)途径诱导的胆固醇耗竭也会增强神经丝氨酸蛋白酶蛋白的聚集。这些发现可以通过在非平衡条件下的蛋白质聚集的计算模型来解释,其中蛋白质清除率的降低会改善聚集。我们通过一个简单的数学模型说明了胆固醇在细胞膜中的减少会影响其生物物理特性,包括形成清除蛋白质所需的囊泡的能力。总之,这些结果表明,即使在没有特定神经丝氨酸蛋白酶突变的情况下,胆固醇的减少也会诱导神经丝氨酸蛋白酶的聚集。我们揭示的新机制可能与其他与蛋白质聚集相关的神经退行性疾病有关。