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[脑类器官对理解和治疗伴有神经发育障碍的罕见遗传病的贡献]

[The contribution of cerebral organoids to the understanding and treatment of rare genetic diseases with neurodevelopmental disorders].

作者信息

El It Fatima, Faivre Laurence, Thauvin-Robinet Christel, Vitobello Antonio, Duplomb Laurence

机构信息

UMR1231 Inserm, Génétique des anomalies du développement (GAD), université de Bourgogne Franche-Comté, Dijon, France - FHU TRANSLAD, CHU Dijon, Dijon, France.

UMR1231 Inserm, Génétique des anomalies du développement (GAD), université de Bourgogne Franche-Comté, Dijon, France - FHU TRANSLAD, CHU Dijon, Dijon, France - Centre de référence des anomalies du développement et syndromes malformatifs, CHU Dijon, Dijon, France.

出版信息

Med Sci (Paris). 2024 Aug-Sep;40(8-9):643-652. doi: 10.1051/medsci/2024100. Epub 2024 Sep 20.

DOI:10.1051/medsci/2024100
PMID:39303116
Abstract

Rare genetic diseases with neurodevelopmental disorders (NDDs) encompass several heterogeneous conditions (autism spectrum disorder (ASD), intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), specific learning disorder (SLD), among others). Currently, few treatments are available for these patients. The difficulty in accessing human brain samples and the discrepancies between human and animal models highlight the need for new research approaches. One promising approach is the use of the cerebral organoids. These 3D, self-organized structures, generated from induced pluripotent stem cells (iPSCs), enable the reproduction of the stages of human brain development, from the proliferation of neural stem cells to their differentiation into neurons, oligodentrocytes, and astrocytes. Cerebral organoids hold great promise in understanding brain development and in the search for treatments.

摘要

患有神经发育障碍(NDDs)的罕见遗传疾病包括多种异质性病症(如自闭症谱系障碍(ASD)、智力障碍(ID)、注意力缺陷多动障碍(ADHD)、特定学习障碍(SLD)等)。目前,针对这些患者的治疗方法很少。获取人脑样本存在困难,且人类模型与动物模型之间存在差异,这凸显了新研究方法的必要性。一种有前景的方法是使用脑类器官。这些由诱导多能干细胞(iPSCs)生成的三维自组织结构能够重现人类大脑发育阶段,从神经干细胞的增殖到其分化为神经元、少突胶质细胞和星形胶质细胞。脑类器官在理解大脑发育和寻找治疗方法方面具有巨大潜力。

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Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.遗传性疾病中的类器官:从疾病建模到转化应用
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