Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
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DOI：
10.1093/hmg/10.23.2645
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发表时间：
2001-11-01
影响因子：
3.5
通讯作者：
Lindsay, EA
中科院分区：
文献类型：
--
作者：
Paylor, R;McIlwain, KL;Lindsay, EA
Del22q11综合征是由染色体22q11.2上一个类似于3Mb的片段的杂合性缺失引起的。诊断为del22q11综合征的儿童通常有学习困难，运动发育缺陷，认知缺陷和注意力缺陷障碍。他们患精神疾病的风险也高于正常水平，主要是精神分裂症、情感障碍和双相情感障碍。在这里，我们表明，小鼠被异源删除的一个子集的基因被删除的患者有缺陷的感觉运动门控和学习和记忆。感觉运动门控缺陷的发现特别重要，因为精神分裂症和典型人格障碍患者表现出类似的缺陷。因此，我们的缺失小鼠模型del22q11相关的行为表型的至少两个主要特征，因此，代表了这种复杂的行为表型的动物模型。这些发现不仅为可能导致改善治疗的药理学分析开辟了道路，而且还为识别调节人类这些特定行为的基因开辟了道路。
Del22q11 syndrome is caused by heterozygous deletion of an similar to3 Mb segment of chromosome 22q11.2. Children diagnosed with del22q11 syndrome commonly have learning difficulties, deficits of motor development, cognitive defects and attention deficit disorder. They also have a higher than normal risk for developing psychiatric disorders, mainly schizophrenia, schizoaffective disorder and bipolar disorder. Here, we show that mice that are heterozygously deleted for a subset of the genes that are deleted in patients have deficits in sensorimotor gating and learning and memory. The finding of sensorimotor gating deficits is particularly significant because patients with schizophrenia and schizotypal personality disorder show similar deficits. Thus, our deletion mouse models at least two major features of the del22q11-associated behavioral phenotype, and as such, represents an animal model of this complex behavioral phenotype. These findings not only open the way to pharmacological analyses that may lead to improved treatments, but also to the identification of gene/s that modulate these specific behaviors in humans.