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E-MTAB-10104

ABSTRACT: Mutant FUS triggers age-dependent synaptic impairment in presymptomatic ALS-FUS mice (RNA-seq part2)

PROVIDER: E-MTAB-10104 | ExpressionAtlas | 2023-06-15

REPOSITORIES: ExpressionAtlas

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			Action	DRS
	E-MTAB-10104-analysis-methods.tsv	Tabular
	E-MTAB-10104-analytics.tsv	Tabular
	E-MTAB-10104-atlasExperimentSummary.Rdata	Rdata
	E-MTAB-10104-configuration.xml	Xml
	E-MTAB-10104-g5_g1-mvaPlot.png	Other

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Mutant FUS triggers age-dependent synaptic impairment in presymptomatic ALS-FUS mice (RNA-seq)

Project description:Mutant FUS triggers age-dependent synaptic impairment in presymptomatic ALS-FUS mice (RNA-seq)

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Mutant FUS triggers age-dependent synaptic impairment in presymptomatic ALS-FUS mice (RNA-seq)

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Mutant FUS triggers age-dependent synaptic impairment in presymptomatic ALS-FUS mice (RNA-seq part2)

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Innervation and cargo-specific axonal transport impairments in FUS-ALS mice with gain and loss of function [RNA-seq]

Project description:Mutations in the RNA-binding protein FUS cause aggressive, early-onset forms of amyotrophic lateral sclerosis (ALS), leading to the progressive degeneration of the neuromuscular system. These mutations drive nuclear depletion and cytoplasmic mislocalisation of FUS, resulting in both loss and gain of function. We investigated these mechanisms and their impact on key pathophysiological processes in vivo, using a novel FUS-ALS mouse model. Adult mice presented widespread transcriptomic alterations consistent with nuclear loss of function, while translatome analysis revealed specific deficits associated with aberrant FUS-dependent cytoplasmic partitioning and gain of function. Mutant FUS expression selectively impaired neuromuscular junction (NMJ) innervation in FUS-ALS females. However, NMJ reinnervation following sciatic nerve crush was equally perturbed in homozygous mutants of both sexes, indicating impaired regeneration and damage responses. Additionally, we observed cargo-specific alterations in axonal transport, a process critical for neuronal function and maintenance; in vivo mitochondrial transport was impaired in homozygous FUS-ALS mice, whereas the retrograde transport of signalling endosomes was again only affected in mutant females, strengthening the link between endosomal transport impairment and NMJ denervation in ALS. Altogether, our findings establish FUS-ALS homozygous mice as a valuable model for investigating early cellular impairments driving ALS pathology, and identify broader and sex-dependent motor neuron dysfunction in FUS-ALS pathogenesis.

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Project description:FUS is a primarily nuclear RNA-binding protein with important roles in RNA processing and transport. FUS mutations disrupting its nuclear localization characterize a subset of amyotrophic lateral sclerosis (ALS-FUS) patients, through an unidentified pathological mechanism. FUS regulates nuclear RNA, but its role at the synapse is poorly understood. Here, we used super-resolution imaging to determine the physiological localization of extranuclear, neuronal FUS and found it predominantly near the vesicle reserve pool of presynaptic sites. Using CLIP-seq on synaptoneurosome preparations, we identified synaptic RNA targets of FUS that are associated with synapse organization and plasticity. Synaptic FUS was significantly increased in a knock-in mouse model of ALS-FUS, at presymptomatic stages. Despite apparently unaltered synaptic organization, RNA-seq of synaptoneurosomes highlighted age-dependent dysregulation of glutamatergic and GABAergic synapses. Our study indicates that FUS relocalization to the synapse in early stages of ALS-FUS results in synaptic impairment, potentially representing an initial trigger of neurodegeneration.

2021-03-05 | E-MTAB-10104 | biostudies-arrayexpress

Mutant FUS triggers age-dependent synaptic impairment in presymptomatic ALS-FUS mice (CLIP-seq)

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