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Cystic leukoencephalopathy without megalencephaly

ABSTRACT: The cystic leukoencephalopathy without megalencephaly has been defined as distinct autosomal-recessive syndrome of quasi-static encephalopathy with normo- or microcephaly, impaired psychomotor development and characteristic pattern on brain MRI. We identified mutations in the gene encoding the RNASET2 glycoprotein in seven affected individuals as the cause of disease. The results suggest that RNASET2 plays an important role in central nervous system myelination and development.

ORGANISM(S): Homo sapiens

PROVIDER: GSE11964 | GEO | 2009/06/02

SECONDARY ACCESSION(S): PRJNA105833

REPOSITORIES: GEO

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Cystic leukoencephalopathy without megalencephaly

Project description:The cystic leukoencephalopathy without megalencephaly has been defined as distinct autosomal-recessive syndrome of quasi-static encephalopathy with normo- or microcephaly, impaired psychomotor development and characteristic pattern on brain MRI. We identified mutations in the gene encoding the RNASET2 glycoprotein in seven affected individuals as the cause of disease. The results suggest that RNASET2 plays an important role in central nervous system myelination and development. 2-Color dye swap design independent for two different families including technical and biologial replicates for affected family members (disease) and not affected family members (controls).

2009-06-02 | E-GEOD-11964 | biostudies-arrayexpress

RNaseT2 deficient mice reveal the interferon-driven brain phenotype of congenital CMV infection and type I interferonopathies

Project description:Infantile-onset RNaseT2 deficient leukoencephalopathy is characterised by cystic brain lesions, multifocal white matter alterations, cerebral atrophy, and severe psychomotor impairment. The phenotype is indistinguishable from congenital cytomegalovirus brain infection and overlaps with typeI interferonopathies like Aicardi-Goutières syndrome, strongly suggesting a role for innate immunity in its pathophysiology. To date, pathophysiological studies have been hindered by the lack of mouse models recapitulating the neuroinflammatory encephalopathy found in patients. In this study, we generated Rnaset2-/- mice using CRISPR/Cas9-mediated genome editing. Strikingly, Rnaset2-/- mice revealed strong upregulation of interferon-stimulated genes and concurrent neuroinflammation, with infiltration of CD8+ effector memory T cells and inflammatory monocytes into the grey and white matter. Homeostatic dysfunctions in glia cells and neurons revealed by single nuclei RNA sequencing provides initial insights into the mechanism of hippocampal-accentuated brain atrophy and cognitive impairment. Thus, Rnaset2 -/- mice provide an important model, to develop therapies for inborn RNaseT2 deficiency, congenital viral brain infection and further type I interferonopathies.

2021-09-30 | GSE180138 | GEO

Microarray expression profiling in zebrafish rnaset2 mutant

Project description:RNASET2-deficient leukoencephalophathy is a severe leukodystrophy affecting children with psychomotor impairements in their forst year of life. We generated the first zebrafish model for a human leukodystrophy by targetting the ortholog rnaset2 gene using mutagenesis. This zebrafish mutant recapitulated the human clinical manisfestations and developed white matter defects detectable by MRI. Additionally, this zebrafish mutant identified this disease as a lysosomal storage disorders, with RNA accumulating in neurons. To understand how accumulation of RNA in neurons trigger white matter lesions, we undertook an unbiased approach and perfored microarray analysis. We identified differentially expressed genes in mutants and the immune system as a key pathway disregulated in the zebrafish rnaset2 mutant.

2019-10-08 | GSE138493 | GEO

Transcriptome-wide analysis of Agc1 downregulation in mouse oligodendrocyte precursor cells

Project description:Aspartate-glutamate carrier isoform 1 (Agc1) is a mitochondrial carrier part of the malate-aspartate shuttle, responsible for the export of aspartate and N-acetyl-aspartate from the mitochondria to the brain. Agc1 deficiency can cause an ultra-rare genetic disease reported as epileptic encephalopathy with global cerebral demyelination often caused by mutation in Slc25a12, the gene from which Agc1 is encoded. Symptoms of the disease include diffused hypomyelination, arrested psychomotor development, severe hypotonia, seizures and are common to other neurological and developmental disorders. Oligodendrocytes are glial cells responsible for myelination and remyelination and a disruption of acetyl fluxes can severely hamper their ability to form myelin leading to abnormal neuronal functionality. In this work, we explore the transcriptome of mouse oligodendrocyte precursor cells that have been silenced for Agc1 expression, reporting results of both canonical analyses such as differential expression and pathway enrichment analyses which highlight a disruption in fatty acids synthesis from both a regulatory and enzymatic stand. We further explore the transcriptome space with a network and an alternative splicing analysis: these results taken together highlight a severe alteration at the transcriptome level, which brought us to question a possible involvement of Agc1 in transcription regulation.

2024-04-03 | GSE236054 | GEO

Cortical transcriptome analysis of Cyfip2 mutant mice

Project description:CYFIP2 is a component of the WAVE regulatory complex which regulates actin polymerization and branching in diverse cellular compartments. Recent molecular genetic studies identified mutations of CYFIP2 in patients with early-onset epileptic encephalopathy and microcephaly, suggesting that CYFIP2 may have some roles in embryonic brain development. To understand its functions in vivo at the molecular level, we performed RNA-seq analysis in embryonic Cyfip2 mutant mice.

2021-09-06 | GSE119570 | GEO

Hey3Met2 human ovarian cancer cells overexpressing wild type or catalytically-dead mutant RNASET2

Project description:Hey3Met2 cells were stably transfected with plasmids encoding either wild-type RNASET2 or a catalytically dead form (whose cDNA has been previously mutagenized in the two CAS catalytic sites) or with the empty vector as a control. The control of ovarian tumorigenesis by RNASET2 occurs through modification of the cellular microenvironment and involvement of immunocompetent cells, thus providing evidence for specific modulations of cellular responses induced by RNASET2 that might underlay ovarian tumorigenesis. In order to get more inside on the effect of RNASET2 on the modulation of other genes, a whole genome expression has been run on Hey3Met2 cell transfected with wildtype or mutated RNASET2.

2011-06-01 | GSE28478 | GEO

RNASET2-silenced and control OVCAR3 cell clones injected into nude mice.

Project description:To investigate the molecular pathways underlying RNASET2-mediated tumor suppression in vivo, we investigated the gene expression profile of tumor samples obtained from control and RNASET2-silenced OVCAR3 xenografts, respectively. In order to evaluate the contribution of human cancer cells and the murine host stroma to RNASET2-mediated tumorigenesis responses, total RNA extracted from tumor xenografts derived from six independent OVCAR3 cell clones (three parental and three RNASET2-silenced clones) was fluorescently labeled and hybridized to human Agilent whole-genome microarrays.

2013-05-01 | GSE43029 | GEO

RNASET2-silenced and control OVCAR3 cell clones injected into nude mice.

2013-05-01 | E-GEOD-43029 | biostudies-arrayexpress

Hey3Met2 human ovarian cancer cells overexpressing wild type or catalytically-dead mutant RNASET2

2011-06-01 | E-GEOD-28478 | biostudies-arrayexpress

Application Study of Intraoperative Contrast-enhanced Ultrasound Combined with Preoperative MRI in the Surgical Treatment of Liver Metastases from Colorectal Cancer

Project description:Interventions: control group:Preoperative MRI;experimental group:Preoperative MRI combined with intraoperative contrast-enhanced ultrasonography Primary outcome(s): recurrence-free survival Study Design: Quasi-randomized controlled

| 79826 | ecrin-mdr-crc

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