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携带α-突触核蛋白基因三倍体的神经前体细胞具有更高的脆弱性和应激敏感性。

Higher vulnerability and stress sensitivity of neuronal precursor cells carrying an alpha-synuclein gene triplication.

作者信息

Flierl Adrian, Oliveira Luís M A, Falomir-Lockhart Lisandro J, Mak Sally K, Hesley Jayne, Soldner Frank, Arndt-Jovin Donna J, Jaenisch Rudolf, Langston J William, Jovin Thomas M, Schüle Birgitt

机构信息

The Parkinson's Institute, Sunnyvale, California, United States of America.

Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.

出版信息

PLoS One. 2014 Nov 12;9(11):e112413. doi: 10.1371/journal.pone.0112413. eCollection 2014.

Abstract

Parkinson disease (PD) is a multi-factorial neurodegenerative disorder with loss of dopaminergic neurons in the substantia nigra and characteristic intracellular inclusions, called Lewy bodies. Genetic predisposition, such as point mutations and copy number variants of the SNCA gene locus can cause very similar PD-like neurodegeneration. The impact of altered α-synuclein protein expression on integrity and developmental potential of neuronal stem cells is largely unexplored, but may have wide ranging implications for PD manifestation and disease progression. Here, we investigated if induced pluripotent stem cell-derived neuronal precursor cells (NPCs) from a patient with Parkinson's disease carrying a genomic triplication of the SNCA gene (SNCA-Tri). Our goal was to determine if these cells these neuronal precursor cells already display pathological changes and impaired cellular function that would likely predispose them when differentiated to neurodegeneration. To achieve this aim, we assessed viability and cellular physiology in human SNCA-Tri NPCs both under normal and environmentally stressed conditions to model in vitro gene-environment interactions which may play a role in the initiation and progression of PD. Human SNCA-Tri NPCs displayed overall normal cellular and mitochondrial morphology, but showed substantial changes in growth, viability, cellular energy metabolism and stress resistance especially when challenged by starvation or toxicant challenge. Knockdown of α-synuclein in the SNCA-Tri NPCs by stably expressed short hairpin RNA (shRNA) resulted in reversal of the observed phenotypic changes. These data show for the first time that genetic alterations such as the SNCA gene triplication set the stage for decreased developmental fitness, accelerated aging, and increased neuronal cell loss. The observation of this "stem cell pathology" could have a great impact on both quality and quantity of neuronal networks and could provide a powerful new tool for development of neuroprotective strategies for PD.

摘要

帕金森病(PD)是一种多因素神经退行性疾病,其特征是黑质中多巴胺能神经元丧失以及存在称为路易小体的特征性细胞内包涵体。遗传易感性,如SNCA基因座的点突变和拷贝数变异,可导致非常相似的帕金森病样神经退行性变。α-突触核蛋白表达改变对神经干细胞完整性和发育潜能的影响在很大程度上尚未得到探索,但可能对帕金森病的表现和疾病进展具有广泛影响。在这里,我们研究了来自一名携带SNCA基因基因组三倍体(SNCA-Tri)的帕金森病患者的诱导多能干细胞衍生的神经前体细胞(NPC)。我们的目标是确定这些神经前体细胞是否已经表现出病理变化和细胞功能受损,这可能使它们在分化时易发生神经退行性变。为了实现这一目标,我们评估了正常和环境应激条件下人类SNCA-Tri NPC的活力和细胞生理学,以模拟体外基因-环境相互作用,这可能在帕金森病的发生和进展中起作用。人类SNCA-Tri NPC总体上显示出正常的细胞和线粒体形态,但在生长、活力、细胞能量代谢和应激抗性方面表现出实质性变化,特别是在受到饥饿或毒物挑战时。通过稳定表达短发夹RNA(shRNA)敲低SNCA-Tri NPC中的α-突触核蛋白导致观察到的表型变化逆转。这些数据首次表明,诸如SNCA基因三倍体之类的基因改变为发育适应性降低、加速衰老和神经元细胞损失增加奠定了基础。这种“干细胞病理学”的观察可能对神经网络的质量和数量都产生重大影响,并可能为帕金森病神经保护策略的开发提供一个强大的新工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f5a/4229205/94f2c3b563b6/pone.0112413.g001.jpg

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