Understanding intellectual disability through RASopathies.
Understanding intellectual disability through RASopathies.
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DOI：
10.1016/j.jphysparis.2014.05.003
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发表时间：
2014-09
影响因子：
--
通讯作者：
Rafael Pagani, Mario
中科院分区：
文献类型：
--
作者：
San Martin, Alvaro;Rafael Pagani, Mario
关键词：
智力残疾，在世界卫生组织的国际疾病分类中通常被称为智力迟钝，是一种描述智力和适应性认知障碍的术语，始于生命早期的发育阶段。目前，人们更倾向于使用“智力残疾”一词。虽然我们对学习和学习障碍的生理基础了解甚少，但一般认为这种情况是相当永久性的。然而，对动物模型的研究表明，学习障碍在本质上可能是功能性的，并且可以通过药理学或适当的学习范式来逆转。智力残疾的一小部分病例是由编码RAS/MAP激酶信号通路蛋白质的基因的点突变或缺失引起的，这些基因被称为RASopathies。在这里，我们检查了目前对这组遗传疾病的分子机制的理解，重点是研究提供证据，证明智力残疾是可以治疗和治愈的。所提出的证据支持这样一种观点，即通过对所涉及的分子机制的适当理解，智力残疾可以从药理学上治疗，也许可以通过特定的基于机械的教学策略来治疗。
Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP Kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies.
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