Human Genome & Diseases: Review Aneuploidy in the normal and diseased brain
Human Genome & Diseases: Review Aneuploidy in the normal and diseased brain
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发表时间：
2006
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通讯作者：
Marcy A. Kingsbury;Y. Yung;Suzanne E. Peterson;J. Westra;Jerold Chun;Helen L. Dorris
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作者：
Marcy A. Kingsbury;Y. Yung;Suzanne E. Peterson;J. Westra;Jerold Chun;Helen L. Dorris
大脑以其复杂的组织和功能而闻名，历史上一直认为这是由具有相同基因组的细胞产生的。然而，最近的研究表明，大脑实际上是一个复杂的非整倍体和整倍体细胞的遗传镶嵌体。神经非整倍体和嵌合体的确切功能目前正在多个方面进行研究，包括对细胞多样性、细胞信号传导和中枢神经系统（CNS）疾病的贡献。遗传性疾病中的组成性非整倍体已被证明在脑功能障碍中起作用，如在唐氏综合征（21三体）和马赛克杂色非整倍体中观察到的。正常个体中非整倍体细胞的存在增加了这样的可能性，即这些细胞可能在正常和患病的脑中具有不同的功能，后者有助于散发性CNS疾病，包括癌症。在这里，我们回顾什么是已知的神经非整倍体，并提供推测其在大脑疾病中的作用。
The brain is remarkable for its complex orga- nization and functions, which have been historically as- sumed to arise from cells with identical genomes. How- ever, recent studies have shown that the brain is in fact a complex genetic mosaic of aneuploid and euploid cells. The precise function of neural aneuploidy and mosaicism are currently being examined on multiple fronts that in- clude contributions to cellular diversity, cellular signaling and diseases of the central nervous system (CNS). Con- stitutive aneuploidy in genetic diseases has proven roles in brain dysfunction, as observed in Down syndrome (trisomy 21) and mosaic variegated aneuploidy. The exis- tence of aneuploid cells within normal individuals raises the possibility that these cells might have distinct func- tions in the normal and diseased brain, the latter contrib- uting to sporadic CNS disorders including cancer. Here we review what is known about neural aneuploidy, and offer speculations on its role in diseases of the brain.