Pereira-Nunes Andreia, Ammarah Ummi, Shang Min, Charatsidou Iris, Sharma Himal, Pereira Sorroche Bruna, Nobis Max, Burg Thibaut, Verschoren Stijn, Relaix Frédéric, Rotini Alessio, Van Den Bosch Ludo, Delfini Marcello, Berardi Emanuele, Mazzone Massimiliano
Laboratory of Tumor Inflammation and Angiogenesis, VIB Center for Cancer Biology, Leuven, Belgium; Laboratory of Tumor Inflammation and Angiogenesis, Center for Cancer Biology, KU Leuven, Leuven, Belgium; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Laboratory of Tumor Inflammation and Angiogenesis, VIB Center for Cancer Biology, Leuven, Belgium; Laboratory of Tumor Inflammation and Angiogenesis, Center for Cancer Biology, KU Leuven, Leuven, Belgium; Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy; Molecular Biotechnology Center, University of Turin, Turin, Italy.
Am J Pathol. 2025 Aug;195(8):1537-1552. doi: 10.1016/j.ajpath.2025.05.003. Epub 2025 Jun 2.
Presynaptic terminals of neuromuscular junctions (NMJs) are sensitive to glutamate, which contributes to NMJ plasticity and synaptic neurotransmission. However, the effect of glutamate on neurotransmission and its pharmacologic modulation in muscle pathologies are understudied. In this study, the efficacy of pharmacologic blockade of glutamate dehydrogenase (GLUD)-1 was investigated in mdx mice, a model of Duchenne muscular dystrophy. The GLUD1 inhibitor R162 mitigated the malfunctioning of NMJs by enhancing glutamate release from muscle fibers and increasing its availability in the muscle interstitium. Glutamate binding to its N-methyl-d-aspartate receptor on the presynaptic bottom of NMJs resulted in the increased release of acetylcholine and functional recovery of the action potential and muscle contraction, ultimately improving muscle performance. Finally, the GLUD1 inhibitor did not affect the homeostatic control of NMJs and the behavior of either healthy or dystrophic mice. This study suggests a promising and feasible therapeutic approach, based on muscle glutamate exploitation, to treating Duchenne muscular dystrophy, an unmet need in the clinic.
神经肌肉接头(NMJ)的突触前终末对谷氨酸敏感,谷氨酸有助于NMJ可塑性和突触神经传递。然而,谷氨酸对神经传递的影响及其在肌肉疾病中的药理调节作用尚未得到充分研究。在本研究中,在杜氏肌营养不良症模型mdx小鼠中研究了谷氨酸脱氢酶(GLUD)-1药理阻断的效果。GLUD1抑制剂R162通过增强肌肉纤维释放谷氨酸并增加其在肌肉间质中的可用性,减轻了NMJ的功能障碍。谷氨酸与其在NMJ突触前底部的N-甲基-D-天冬氨酸受体结合,导致乙酰胆碱释放增加以及动作电位和肌肉收缩功能恢复,最终改善肌肉性能。最后,GLUD1抑制剂不影响NMJ的稳态控制以及健康或营养不良小鼠的行为。本研究提出了一种基于利用肌肉谷氨酸治疗杜氏肌营养不良症的有前景且可行的治疗方法,这是临床上尚未满足的需求。