Genes and Disease Programme, Centre for Genomic Regulation (CRG), Universitat Pompeu Fabra, Centro de Investigación Biomédica en Red de Enfermedades Raras, E-08003 Barcelona, Spain.
Nat Rev Neurosci. 2012 Dec;13(12):844-58. doi: 10.1038/nrn3314.
Down syndrome is the most common form of intellectual disability and results from one of the most complex genetic perturbations that is compatible with survival, trisomy 21. The study of brain dysfunction in this disorder has largely been based on a gene discovery approach, but we are now moving into an era of functional genome exploration, in which the effects of individual genes are being studied alongside the effects of deregulated non-coding genetic elements and epigenetic influences. Also, new data from functional neuroimaging studies are challenging our views of the cognitive phenotypes associated with Down syndrome and their pathophysiological correlates. These advances hold promise for the development of treatments for intellectual disability.
唐氏综合征是最常见的智力障碍形式，它是由最复杂的遗传干扰之一引起的，这种干扰与 21 三体的生存兼容。对这种疾病的大脑功能障碍的研究在很大程度上是基于基因发现方法，但我们现在正进入一个功能基因组探索的时代，在这个时代，人们正在研究单个基因的影响，以及失调的非编码遗传元件和表观遗传影响的影响。此外，功能神经影像学研究的新数据也在挑战我们对唐氏综合征相关认知表型及其病理生理学相关性的看法。这些进展为智力障碍的治疗方法的发展带来了希望。
