Transcriptionally downregulated GABAergic genes associated with synaptic density network dysfunction in temporal lobe epilepsy.

Purpose: Temporal lobe epilepsy (TLE) is a brain network disorder closely associated with synaptic loss and has a genetic basis. However, the in vivo whole-brain synaptic changes at the network-level and the underlying gene expression patterns in patients with TLE remain unclear. Methods: In this st...

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Publicado en:European Journal of Nuclear Medicine & Molecular Imaging Vol. 52; no. 6; pp. 1970 - 1989
Autores principales: Li, Rong, Xiao, Ling, Han, Honghao, Long, Hongyu, Liao, Wei, Yang, Zhenzhe, Zhu, Haoyue, Wang, Xuyang, Zou, Ting, Huang, Yongwen, Biswal, Bharat B., Zhou, Ming, Li, Jian, Li, Yulai, Rominger, Axel, Shi, Kuangyu, Chen, Huafu, Tang, Yongxiang, Feng, Li, Hu, Shuo
Formato: Journal Article
Publicado: Springer Nature May2025
Acceso en línea:Ver este registro en EBSCOhost
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      dt: May2025
      vid: 52
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      pub: Springer Nature
      place: New York, New York
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        184671072
        182090240
        10.1007/s00259-024-07054-5
        184671072
      ppf: 1970
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        atl: Transcriptionally downregulated GABAergic genes associated with synaptic density network dysfunction in temporal lobe epilepsy.
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        au:
          Li, Rong
          Xiao, Ling
          Han, Honghao
          Long, Hongyu
          Liao, Wei
          Yang, Zhenzhe
          Zhu, Haoyue
          Wang, Xuyang
          Zou, Ting
          Huang, Yongwen
          Biswal, Bharat B.
          Zhou, Ming
          Li, Jian
          Li, Yulai
          Rominger, Axel
          Shi, Kuangyu
          Chen, Huafu
          Tang, Yongxiang
          Feng, Li
          Hu, Shuo
        affil: https://ror.org/04qr3zq92 The Clinical Hospital of Chengdu Brain Science Institute, School of Life Science and Technology, University of Electronic Science and Technology of China, 611731, Chengdu, P.R. China
      sug:
      ab: Purpose: Temporal lobe epilepsy (TLE) is a brain network disorder closely associated with synaptic loss and has a genetic basis. However, the in vivo whole-brain synaptic changes at the network-level and the underlying gene expression patterns in patients with TLE remain unclear. Methods: In this study, we utilized a positron emission tomography with the synaptic vesicle glycoprotein 2 A radioligand [18F]SynVesT-1 cohort and two independent transcriptome datasets to investigate the topological properties of the synaptic density similarity network (SDSN) in TLE and its correlation with significantly dysregulated risk genes. Results: We observed an overall decrease in strength, reduced clustering coefficient, and increased path length of SDSN in TLE, suggesting a loss of connectivity that is accompanied by network reorganization. These changes were predominantly distributed in the temporo-limbic circuit and fronto-parietal networks. Moreover, connectivity changes in SDSN were found to be spatially correlated with the brain-wide expression of TLE risk genes, and the transcriptional correlate of SDSN changes showed a significant relationship with gene dysregulation. In particular, we identified a total of 183 downregulated genes that were functionally enriched for synaptic transmission pathways, forming a highly connected genetic interaction network. Within this set of genes, GABAergic genes such as RBFOX1 play a central role. Discussion: Our study provides the first evidence that the spatial expression patterns of downregulated risk genes underlie in vivo synaptic density network dysfunction in TLE. These imaging-transcriptomic findings have the potential to guide the development of molecular and genetic network-based therapeutic approaches for TLE.
      pubtype: Academic Journal
      doctype: Journal Article
      ougenre: Article
    language: English
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