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Modulation of synaptic phosphodiesterase PDE2A activity is a new therapeutic approach for Fragile X Syndrome in newborns and adolescents.

ABSTRACT: Modulation of synaptic phosphodiesterase PDE2A activity is a new therapeutic approach for Fragile X Syndrome in newborns and adolescents.

PROVIDER: PRJNA412231 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR6077860.fastq.gz	Fastqsanger.gz
	SRR6077870.fastq.gz	Fastqsanger.gz
	SRR6077861.fastq.gz	Fastqsanger.gz
	SRR6077862.fastq.gz	Fastqsanger.gz
	SRR6077863.fastq.gz	Fastqsanger.gz

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Modulation of synaptic phosphodiesterase PDE2A activity is a new therapeutic approach for Fragile X Syndrome in newborns and adolescents.

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Project description:Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, results from the loss of the RNA-binding protein fragile X mental retardation protein (FMRP). FMRP is a translational regulator and is highly expressed in glial cells, where its role in neural circuit development remains poorly defined. Here, it was observed that Fmr1 knockout mice exhibit reduced synapse size and accelerated eye-specific segregation. To examine which cell-types participate in this process, a multi-omic framework was applied to FXS model mice at postnatal day 7, a critical window for synaptic remodeling in the retinogeniculate pathway, an established model system utilized to study synaptic pruning. Single-cell transcriptomics revealed coordinated alterations in microglia, astrocytes, and neurons in genes linked to synaptic pruning. Computational modeling further demonstrated enhanced astrocyte-to-microglia signaling, particularly through Ephrin A (EphA)- and semaphorin-mediated pathways, while lipidomic profiling revealed reductions in EphA-associated lipid species required for lipid raft stability and receptor localization. Consistent with these observations, a glial engulfment assay indicated that FXS microglia and astroglia over-engulf synaptic material in the lateral geniculate nucleus, supporting the transcriptomic profile. Together, these findings identify impaired glial-driven synaptic refinement as an early mechanistic feature of FXS pathogenesis, highlighting the genes involved in this process as potential therapeutic targets during circuit development.

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m6A-mediated epi-transcriptomic dysregulation underlies synaptic dysfunction in fragile X syndrome [MeRIP-seq]

Project description:N6-methyladenosine (m6A) is a prevalent mRNA modification essential for post-transcriptional regulation. Fragile X syndrome (FXS), the leading genetic cause of intellectual disability, arises from FMR1 gene silencing and loss of FMRP, which has been shown to antagonize m6A readers. However, the impact of FMRP loss on transcriptome-wide m6A modifications in human FXS remains unknown. Using cortical neurons derived from healthy subjects and FXS patient-induced pluripotent stem cells, we found that FXS neurons exhibited synaptic and neuronal network defects, mirroring clinical EEG data from the same FXS patients. FMRP deficiency led to increased translation of m6A writers, resulting in transcriptome-wide hypermethylation, primarily affecting synapse-associated transcripts and increasing mRNA decay. Treatment with an m6A writer inhibitor rescued synaptic defects in FXS neurons, highlighting its therapeutic potential. Our findings uncover an epi-transcriptomic mechanism by which FMRP deficiency disrupts m6A modifications in FXS, contributing to FXS pathogenesis, and suggest a promising avenue for m6A-targeted therapies.

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