Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital, Boston, MA, USA; Division of Movement Disorders, American Parkinson Disease Association (APDA) Center for Advanced Research and MSA Center of Excellence, Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital, Boston, MA, USA; Division of Movement Disorders, American Parkinson Disease Association (APDA) Center for Advanced Research and MSA Center of Excellence, Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Division of Neurobiology, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Neuron. 2024 Sep 4;112(17):2886-2909.e16. doi: 10.1016/j.neuron.2024.06.002. Epub 2024 Jul 29.
The heterogeneity of protein-rich inclusions and its significance in neurodegeneration is poorly understood. Standard patient-derived iPSC models develop inclusions neither reproducibly nor in a reasonable time frame. Here, we developed screenable iPSC "inclusionopathy" models utilizing piggyBac or targeted transgenes to rapidly induce CNS cells that express aggregation-prone proteins at brain-like levels. Inclusions and their effects on cell survival were trackable at single-inclusion resolution. Exemplar cortical neuron α-synuclein inclusionopathy models were engineered through transgenic expression of α-synuclein mutant forms or exogenous seeding with fibrils. We identified multiple inclusion classes, including neuroprotective p62-positive inclusions versus dynamic and neurotoxic lipid-rich inclusions, both identified in patient brains. Fusion events between these inclusion subtypes altered neuronal survival. Proteome-scale α-synuclein genetic- and physical-interaction screens pinpointed candidate RNA-processing and actin-cytoskeleton-modulator proteins like RhoA whose sequestration into inclusions could enhance toxicity. These tractable CNS models should prove useful in functional genomic analysis and drug development for proteinopathies.
富含蛋白质的包涵体的异质性及其在神经退行性变中的意义尚不清楚。标准的患者来源的 iPSC 模型既不能重现,也不能在合理的时间范围内形成包涵体。在这里,我们开发了可筛选的 iPSC“包涵体病”模型,利用 piggyBac 或靶向转基因,快速诱导在大脑样水平表达聚集倾向蛋白的中枢神经系统细胞。在单个包涵体分辨率下可以跟踪包涵体及其对细胞存活的影响。通过转染α-突触核蛋白突变体或外源性纤维的方式,构建了具有代表性的皮质神经元α-突触核蛋白包涵体病模型。我们鉴定了多种包涵体类型,包括具有神经保护作用的 p62 阳性包涵体与动态和神经毒性脂质丰富的包涵体,这两种类型均在患者大脑中被发现。这些包涵体亚型之间的融合事件改变了神经元的存活。全蛋白质组范围的α-突触核蛋白遗传和物理相互作用筛选确定了候选 RNA 处理和肌动蛋白细胞骨架调节剂蛋白,如 RhoA,其被隔离到包涵体中可能会增强毒性。这些易于处理的中枢神经系统模型应该在功能基因组分析和蛋白质病的药物开发中证明是有用的。