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用于唐氏综合征研究的脊椎动物和无脊椎动物模型。

Vertebrate and Invertebrate Animal Models for the Study of Down Syndrome.

作者信息

Granholm Ann-Charlotte

机构信息

Department of Neurosurgery, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

出版信息

Int J Mol Sci. 2025 Aug 21;26(16):8092. doi: 10.3390/ijms26168092.

DOI:10.3390/ijms26168092
PMID:40869415
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12386676/
Abstract

Down syndrome (DS) is the most common survivable chromosome trisomy, with an incidence of about 1 in 600-700 births. Consequences of chromosome 21 trisomy include developmental delays, congenital cardiac abnormalities, skeletal abnormalities, and age-related dementia of the Alzheimer's disease (AD) type. Up to 90% of individuals with DS develop dementia symptoms in their 40s or 50s. Because the biological mechanisms involved in DS-related developmental and age-related pathology are less known, animal models consisting of both lower-order and higher-order animals have been developed. We here review the most pertinent and well-studied DS animal models including models developed in , , zebrafish, and mice. Molecular pathways involved in DS morbidity that were discovered in animal models will also be discussed.

摘要

唐氏综合征(DS)是最常见的可存活的染色体三体疾病,发病率约为每600 - 700例出生中有1例。21号染色体三体的后果包括发育迟缓、先天性心脏异常、骨骼异常以及阿尔茨海默病(AD)类型的与年龄相关的痴呆。高达90%的唐氏综合征患者在40多岁或50多岁时出现痴呆症状。由于与唐氏综合征相关的发育和与年龄相关的病理学所涉及的生物学机制尚不清楚,因此已经开发了包括低等动物和高等动物在内的动物模型。我们在此回顾最相关且研究充分的唐氏综合征动物模型,包括在[此处可能缺失具体物种信息]、斑马鱼和小鼠中开发的模型。还将讨论在动物模型中发现的与唐氏综合征发病相关的分子途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/71ecb81d8e3d/ijms-26-08092-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/368744dd4be8/ijms-26-08092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/8708b7a569ab/ijms-26-08092-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/71ecb81d8e3d/ijms-26-08092-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/368744dd4be8/ijms-26-08092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/8708b7a569ab/ijms-26-08092-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6809/12386676/71ecb81d8e3d/ijms-26-08092-g003.jpg

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本文引用的文献

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Development. 2025 May 15;152(10). doi: 10.1242/dev.204589. Epub 2025 May 27.
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Sequential and independent probabilistic events regulate differential axon targeting during development in Drosophila melanogaster.在黑腹果蝇发育过程中,相继且独立的概率性事件调控着不同轴突的靶向。
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