Unité de Biologie Fonctionnelle et Adaptative, Sorbonne Paris Cité, Universite Paris Diderot, EAC4413 CNRS, 75205 Paris Cedex 13, France.
Neural Plast. 2012;2012:171639. doi: 10.1155/2012/171639. Epub 2012 Jul 12.
Down syndrome is a complex disease that has challenged molecular and cellular research for more than 50 years. Understanding the molecular bases of morphological, cellular, and functional alterations resulting from the presence of an additional complete chromosome 21 would aid in targeting specific genes and pathways for rescuing some phenotypes. Recently, progress has been made by characterization of brain alterations in mouse models of Down syndrome. This review will highlight the main molecular and cellular findings recently described for these models, particularly with respect to their relationship to Down syndrome phenotypes.
唐氏综合征是一种复杂的疾病，已经挑战了分子和细胞研究 50 多年。了解由于额外的完整 21 号染色体的存在而导致的形态、细胞和功能改变的分子基础，将有助于针对特定基因和途径进行靶向治疗，以挽救一些表型。最近，通过对唐氏综合征小鼠模型的大脑改变的特征描述，取得了进展。这篇综述将重点介绍最近为这些模型描述的主要分子和细胞发现，特别是它们与唐氏综合征表型的关系。
