Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels.
Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels.
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DOI：
10.1016/j.conb.2012.03.010
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发表时间：
2012-10
影响因子：
5.7
通讯作者：
Jan LY
中科院分区：
文献类型：
--
作者：
Lee HY;Jan LY
Fragile X syndrome (FXS) is a common form of mental disability and one of the known causes of autism. The mutation responsible for FXS is a large expansion of the trinucleotide CGG repeats which leads to DNA methylation of the fragile X mental retardation gene 1 (FMR1) and transcriptional silencing, resulting in the absence of fragile X mental retardation protein (FMRP), an mRNA binding protein. Although it is widely known that FMRP is critical for metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD), which has provided a general theme for developing pharmacological drugs for FXS, specific downstream targets of FMRP may also be of therapeutic value. Since alterations in potassium channel expression level or activity could underlie neuronal network defects in FXS, here we describe recent findings on how these channels might be altered in mouse models of FXS and the possible therapeutic avenues for treating FXS.
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