细胞信号转导与X连锁的非特异性精神发育迟滞

Signal transduction and X-linked non-specific mental retardation

非特异性精神发育迟滞是患者仅表现出一般或特殊认知功能障碍的一种病症。对相关的基因及其生理功能进行研究,不仅对弄清非特异性精神发育迟滞的遗传基础有重要意义,还能揭示人类认知功能的分子遗传机理。文章对一些涉及X连锁的非特异精神发育迟滞的基因,其表达产物同时参与细胞信号转导的信号分子,如跨膜受体、鸟苷酸相关蛋白和激酶的生理功能及其研究现状进行了阐述,揭示了细胞信号转导与人类认知活动之间的密切关系,为精神发育迟滞的治疗或预防提供新思路。

Non-specific mental retardation（NSMR） is a kind of disease, of which patients appear simple phenotypes of generic or specific cognitive impairment. Studying of the biological functions of NSMR related genes is of great importance, not only to clarify the genetic basis of NSMR, but also to reveal the molecular genetic mechanisms of human cognitive function. This paper expounds the physiological functions and recent progresses of X-linked NSMR related genes, and the proteins they coded, such as transmembrane receptors, guanine nucleotide related proteins, and kinases, which play a crucial role in the signal transduction. The closed relation between human cognitive behavior and signal transduction is illustrated, which might provide a new in sight for prevention and therapies of mental retardation.