Huntington’s disease alters human neurodevelopment

doi:10.1126/science.aax3338

GSTDTAP > 气候变化

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
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).