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DOI | 10.1126/science.aax3338 |
Huntington’s disease alters human neurodevelopment | |
Monia Barnat; Mariacristina Capizzi; Esther Aparicio; Susana Boluda; Doris Wennagel; Radhia Kacher; Rayane Kassem; Sophie Lenoir; Fabienne Agasse; Barbara Y. Braz; Jeh-Ping Liu; Julien Ighil; Aude Tessier; Scott O. Zeitlin; Charles Duyckaerts; Marc Dommergues; Alexandra Durr; Sandrine Humbert | |
2020-08-14 | |
发表期刊 | Science
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出版年 | 2020 |
英文摘要 | Symptoms of Huntington's disease (HD) manifest in adulthood despite the aberrant protein being present much earlier in persons carrying the disease-causing mutation. Barnat et al. studied the cellular effects of the HD mutation on human and mouse fetal brain development (see the Perspective by DiFiglia). The authors found that neural progenitor cells at the brain's ventricular zone reach out to both the apical and basal surfaces of the neuroepithelial wall, and their cellular nuclei shuttle back and forth as the cell cycle progresses. With the aberrant protein, these epithelial junctions are disrupted, epithelial polarity is disturbed, and the cell cycle favors premature neuronal differentiation. Science , this issue p. [787][1]; see also p. [771][2] Although Huntington’s disease is a late-manifesting neurodegenerative disorder, both mouse studies and neuroimaging studies of presymptomatic mutation carriers suggest that Huntington’s disease might affect neurodevelopment. To determine whether this is actually the case, we examined tissue from human fetuses (13 weeks gestation) that carried the Huntington’s disease mutation. These tissues showed clear abnormalities in the developing cortex, including mislocalization of mutant huntingtin and junctional complex proteins, defects in neuroprogenitor cell polarity and differentiation, abnormal ciliogenesis, and changes in mitosis and cell cycle progression. We observed the same phenomena in Huntington’s disease mouse embryos, where we linked these abnormalities to defects in interkinetic nuclear migration of progenitor cells. Huntington’s disease thus has a neurodevelopmental component and is not solely a degenerative disease. [1]: /lookup/doi/10.1126/science.aax3338 [2]: /lookup/doi/10.1126/science.abd6215 |
领域 | 气候变化 ; 资源环境 |
URL | 查看原文 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/288078 |
专题 | 气候变化 资源环境科学 |
推荐引用方式 GB/T 7714 | Monia Barnat,Mariacristina Capizzi,Esther Aparicio,等. Huntington’s disease alters human neurodevelopment[J]. Science,2020. |
APA | Monia Barnat.,Mariacristina Capizzi.,Esther Aparicio.,Susana Boluda.,Doris Wennagel.,...&Sandrine Humbert.(2020).Huntington’s disease alters human neurodevelopment.Science. |
MLA | Monia Barnat,et al."Huntington’s disease alters human neurodevelopment".Science (2020). |
条目包含的文件 | 条目无相关文件。 |
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