GDAP2 Overexpression Affects the Development of Neurons and Dysregulates Neuronal Excitatory Synaptic Transmission

作者全名："Hu, Danmei; Guo, Yi; Wu, Maolin; Ma, Yuanlin; Jing, Wei"

作者地址："[Hu, Danmei; Wu, Maolin; Jing, Wei] Shanxi Med Univ, Shanxi Acad Med Sci, Shanxi Bethune Hosp, Tongji Shanxi Hosp,Dept Neurol,Hosp 3, Taiyuan 030032, Peoples R China; [Hu, Danmei; Wu, Maolin; Jing, Wei] Shanxi Med Univ, Minist Educ Taiyuan, Key Lab Cellular Physiol, Taiyuan, Peoples R China; [Guo, Yi; Ma, Yuanlin] Chongqing Med Univ, Chongqing Key Lab Neurol, Affiliated Hosp 1, Dept Neurol, Chongqing, Peoples R China"

通信作者："Ma, YL (通讯作者)，Chongqing Med Univ, Chongqing Key Lab Neurol, Affiliated Hosp 1, Dept Neurol, Chongqing, Peoples R China.; Jing, W (通讯作者)，Shanxi Med Univ, Dept Neurol, Hosp 3, Shanxi Bethune Hosp,Shanxi Acad Med Sci,Tongji Sh, Taiyuan 030032, Peoples R China."

来源：NEUROSCIENCE

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:000789583700004

JCR分区：Q3

影响因子：3.3

年份：2022

卷号：488

期号：　

开始页：32

结束页：43

文献类型：Article

关键词：GDAP2; synaptic transmission; electrophysiological; epilepsy

摘要："is a gene highly expressed in the human brain and encodes ganglioside-induced differentiation-associated protein 2 (GDAP2). At present, little is known about the function of GDAP2. In recent years, it has been reported that mutations in the GDAP2 gene may be involved in hereditary cerebellar ataxia. In this study, we first conducted a preliminary study on the effect of GDAP2 overexpression on cultured primary hippocampal neurons in vitro. By analysing neuronal morphology, it was found that the complexity of neurons and the number of dendritic spines increased when GDAP2 was upregulated. The electrophysiological recordings showed that GDAP2 overexpression significantly increased the frequency of mEPSCs, suggesting that GDAP2 overexpression dysregulates excitatory synaptic transmission in cultured primary hippocampal neurons in vitro. On the other hand, behavioural and field-potential recordings of epileptic mouse models showed that GDAP2 overexpression was associated with increased seizure frequency. In summary, this preliminary study suggested that GDAP2 overexpression may have a certain pathogenic effect, providing a new perspective for the study of gene-related diseases such as epilepsy.(c) 2022 IBRO. Published by Elsevier Ltd. All rights reserved."

基金机构：National Natural Science Foundation of China [81901332]; Foundation of China Association Against Epilepsy [CU-A-2021-26]; Natural Science Research Foundation of Shanxi Province [20210302123486]; Foundation of Shanxi Bethune Hospital [2021YJ01]

基金资助正文："This work was supported by grants from the National Natural Science Foundation of China (grant number 81901332) , Foundation of China Association Against Epilepsy (grant number CU-A-2021-26) , Natural Science Research Foundation of Shanxi Province (grant number 20210302123486) and Foundation of Shanxi Bethune Hospital (grant number 2021YJ01) ."