Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.

IF 3.4 3区 生物学 Q3 CELL BIOLOGY
Giovanna Piovani, Rosalba Monica Ferraro, Silvia Clara Giliani
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引用次数: 0

Abstract

The Cri Du Chat (CdC) Syndrome is a rare chromosome disease condition resulting from variable size deletion occurring on the short arm of one of the chromosomes 5. This disorder, which affects one in 50,000 births, is responsible for developmental retardation, the mechanism of which has remained unexplained. TERT, SEMA5 A, CTNND2, TPPP, mapped in chromosome 5 short arm, are known to be expressed in the brain, and to play a role in the development of the nervous system, oligodentrocytes and in the regulation of glutamatergic and dopaminergic synaptic transmission. It is critical to understand how their haploinsufficiency might affect the development and presentation of the disease. In the absence of an animal model and of significant accessible, human tissue, human pluripotent stem cells (iPSC) directly reprogrammed from patient somatic cells open a new area of disease modeling as they can virtually be differentiated into any cell type. Our study reports, for the first time, the generation of neuronal stem cells (NSCs) from CdC-iPSCs line and in addition, subsequent differentiation into a heterogeneous population of neurons. Gene expression of the mentioned and single copy deleted genes was also evaluated by comparing their expression level in iPSC, NSCs and neuron lines. The present research represents the first and the most innovative approach, to create an in vitro CdC neuronal model to have a new translational framework to study the pathologic processes.

Cri Du Chat神经干细胞的建立和表征:研究该综合征的一个新的有前途的资源。
Cri Du Chat (CdC)综合征是一种罕见的染色体疾病,由其中一条染色体短臂上发生的可变大小缺失引起。这种疾病的发病率为五万分之一,它会导致发育迟缓,其机制仍未得到解释。TERT, sema5a, CTNND2, TPPP,定位于5号染色体短臂,已知在大脑中表达,并在神经系统,少突胶质细胞的发育和谷氨酸能和多巴胺能突触传递的调节中发挥作用。了解它们的单倍体功能不全如何影响疾病的发展和表现是至关重要的。在缺乏动物模型和重要的可获取的人体组织的情况下,直接从患者体细胞重编程的人类多能干细胞(iPSC)开辟了疾病建模的新领域,因为它们实际上可以分化成任何细胞类型。我们的研究首次报道了从CdC-iPSCs细胞系中产生神经干细胞(NSCs),并随后分化为异质神经元群体。通过比较iPSC、NSCs和神经元细胞系中上述基因和单拷贝缺失基因的表达水平,评估其基因表达。本研究首次也是最具创新性的方法,建立了体外CdC神经元模型,为研究病理过程提供了新的翻译框架。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Human Cell
Human Cell CELL BIOLOGY-
CiteScore
5.90
自引率
2.30%
发文量
176
审稿时长
4.5 months
期刊介绍: Human Cell is the official English-language journal of the Japan Human Cell Society. The journal serves as a forum for international research on all aspects of the human cell, encompassing not only cell biology but also pathology, cytology, and oncology, including clinical oncology. Embryonic stem cells derived from animals, regenerative medicine using animal cells, and experimental animal models with implications for human diseases are covered as well. Submissions in any of the following categories will be considered: Research Articles, Cell Lines, Rapid Communications, Reviews, and Letters to the Editor. A brief clinical case report focusing on cellular responses to pathological insults in human studies may also be submitted as a Letter to the Editor in a concise and short format. Not only basic scientists but also gynecologists, oncologists, and other clinical scientists are welcome to submit work expressing new ideas or research using human cells.
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