Animal models of mental retardation: from gene to cognitive function
Animal models of mental retardation: from gene to cognitive function
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DOI：
10.1016/s0149-7634(03)00016-2
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发表时间：
2003-01-01
影响因子：
8.2
通讯作者：
Ricceri, L
中科院分区：
文献类型：
--
作者：
Branchi, I;Bichler, Z;Ricceri, L
大约2-3%的儿童患有智力迟钝，遗传条件是智力迟钝的主要原因。调节大脑发育关键步骤的基因编码信息的改变可能会破坏正常的发育过程，并对心理过程产生深远的影响。转基因小鼠模型有助于阐明特定基因改变和基因-环境相互作用对几种形式的智力低下表型的贡献。已经开发了几种神经发育病理学的小鼠模型，例如唐氏综合征和雷特综合征以及X连锁形式的精神发育迟滞。由于行为是大脑的最终输出，这些模型的行为表型提供了使用分子、细胞或组织学评估可能无法检测到的功能信息。特别是，行为的个体发生的研究建议在具有发育发作的障碍的小鼠模型中进行。确定特定基因在神经病理学中的作用提供了一个框架，以了解人类大脑发育的关键阶段，并提供了潜在的治疗干预的目标。(C)2003爱思唯尔科技有限公司版权所有。
About 2-3% of all children are affected by mental retardation, and genetic conditions rank among the leading causes of mental retardation. Alterations in the information encoded by genes that regulate critical steps of brain development can disrupt the normal course of development, and have profound consequences on mental processes. Genetically modified mouse models have helped to elucidate the contribution of specific gene alterations and gene-environment interactions to the phenotype of several forms of mental retardation. Mouse models of several neurodevelopmental pathologies, such as Down and Rett syndromes and X-linked forms of mental retardation, have been developed. Because behavior is the ultimate output of brain, behavioral phenotyping of these models provides functional information that may not be detectable using molecular, cellular or histological evaluations. In particular, the study of ontogeny of behavior is recommended in mouse models of disorders having a developmental onset. Identifying the role of specific genes in neuropathologies provides a framework in which to understand key stages of human brain development, and provides a target for potential therapeutic intervention. (C) 2003 Elsevier Science Ltd. All rights reserved.