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Dysregulated cell states revealed by single-cell multiomics in mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy

ABSTRACT: Dysregulated cell states revealed by single-cell multiomics in mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy

PROVIDER: PRJNA1196959 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR31685121.fastq.gz	Fastqsanger.gz
	SRR31685122_1.fastq.gz	Fastqsanger.gz
	SRR31685122_2.fastq.gz	Fastqsanger.gz
	SRR31685123.fastq.gz	Fastqsanger.gz
	SRR31685124.fastq.gz	Fastqsanger.gz

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Dysregulated cell states revealed by single-cell multiomics in mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy

Project description:Mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a distinct form of focal epilepsy characterized by oligodendroglial clusters, heterotopic neurons, and hypomyelination in the white matter. While previous studies have implicated somatic mutations in the SLC35A2 gene, the cellular and molecular mechanisms underlying MOGHE pathogenesis remain largely unknown. In this study, we utilized multiomic single-nuclei sequencing to profile the gene expression and chromatin accessibility of MOGHE lesions at cellular resolution. Analysis of grey and white matter regions from two MOGHE patients revealed significant alterations in cellular composition, highlighting an expansion of oligodendrocytes and the presence of heterotopic neurons within the subcortical white matter. We identified a population of MOGHE-associated oligodendrocytes, which were enriched in genes involved in immune response, myelination disruption, and epilepsy-related pathways, and shared transcriptional similarities with pathological oligodendrocytes identified in other neurological disorders. Further analysis of heterotopic neurons in MOGHE revealed the upregulation of genes associated with neuronal migration and the Wnt signaling pathway, suggesting a potential mechanism underlying their atypical localization. Altogether, this high-resolution cellular characterization of MOGHE unveils the neuronal and glial subpopulations affected in the disease and provide novel insights into the pathophysiological mechanisms of MOGHE.

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Cell type mapping of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy using single-nucleus multiomics.

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Mouse models of Slc35a2 brain mosaicism reveal mechanisms of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy.

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Project description:Multiple sclerosis (MS) is the most frequent demyelinating disease and despite significant advances in the immunotherapy, disease progression still cannot be prevented. Promotion of remyelination, an endogenous repair process, represents a promising new treatment approach. However, spontaneous remyelination frequently fails in MS lesions due to an impaired differentiation of progenitor cells into mature, myelinating oligodendrocytes. Intrinsic oligodendroglial and extrinsic inflammatory factors may contribute to this differentiation block. Therefore, we compared induced pluripotent stem cell (iPSC)-derived oligodendrocytes (hiOL) from MS patients and healthy controls as well as their response to extrinsic factors. While functional capabilities or proteome compostion of both cell types were virtually indistinguishable, we discovered that Interferon-gamma (IFNÎ³) producing immune cells significantly impaired oligodendroglial differentiation and observed no differences in the functional capabilities or the proteome. In summary, these data indicate that the oligodendroglial differentiation block is not due to intrinsic oligodendroglial factors, but rather caused by the inflammatory environment present in MS lesions. These findings may contribute to the development of remyelination promoting strategies in MS.

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