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Loss of synaptic Munc13-1 underlies neurotransmission abnormalities in spinal muscular atrophy
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Loss of synaptic Munc13-1 underlies neurotransmission abnormalities in spinal muscular atrophy
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Journal Article
Loss of synaptic Munc13-1 underlies neurotransmission abnormalities in spinal muscular atrophy
2025
Overview
Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease characterized by degeneration of spinal motoneurons, leading to muscle atrophy and synaptic loss. SMN functions in mRNA splicing, transport, and local translation are crucial for maintaining synaptic integrity. Within the presynaptic membrane, the active zone orchestrates the docking and priming of synaptic vesicles. The Munc13 family proteins are key active zone components that operate precise neurotransmitter release in conjunction with voltage-gated Ca
2+
channels (VGCCs). However, the role of Munc13s in synaptic dysfunction in SMA remains elusive. Our findings reveal that Munc13-1 loss, but not Munc13-2, is closely linked to synaptic aberrations in SMA. Specifically,
Munc13-1
mRNA localization in axons is dependent on Smn, and its disruption leads to impaired AZ assembly and VGCC clustering in motoneurons, ultimately reducing neuronal activity. In contrast, Munc13-2 does not appear to be essential for AZ assembly or motoneuron differentiation, as its functions can be compensated by Munc13-1. These findings highlight the pivotal role of Munc13-1 in synapse integrity and point to potential therapeutic targets for mitigating synaptic loss in SMA.
Publisher
Springer International Publishing,Springer Nature B.V,Springer
Subject
/ Animals
/ Atrophy
/ Axons
/ Biomedical and Life Sciences
/ Calcium channels (voltage-gated)
/ Calcium Channels - metabolism
/ Glucose
/ Humans
/ Mice
/ mRNA
/ Munc13-2
/ Muscular Atrophy, Spinal - genetics
/ Muscular Atrophy, Spinal - metabolism
/ Muscular Atrophy, Spinal - pathology
/ Muscular Atrophy, Spinal - physiopathology
/ Mutation
/ Nerve Tissue Proteins - genetics
/ Nerve Tissue Proteins - metabolism
/ Original
/ Survival of Motor Neuron 1 Protein - genetics
/ Survival of Motor Neuron 1 Protein - metabolism
