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In-utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

ABSTRACT: In-utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

PROVIDER: PRJNA1130845 | ENA |

REPOSITORIES: ENA

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In-utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

Project description:Wiedemann-Steiner syndrome (WDSTS) is a rare genetically determined cause of intellectual disability primarily caused by heterozygous loss of function variants in the gene encoding the histone methyltransferase KMT2A. Prior studies have shown successful postnatal amelioration of disease phenotypes for several related Mendelian disorders of the epigenetic machinery, including Rett, Rubinstein-Taybi and Kabuki syndromes. To explore whether the neurological phenotype in WDSTS is treatable in-utero, we created a novel mouse model carrying a loss of function variant in between two LoxP sites. Kmt2a+/LSL mice demonstrate core features of WDSTS including growth retardation, craniofacial abnormalities, and hypertrichosis as well as hippocampal memory defects. This mouse model offers a strategy to systematically explore the therapeutic window in WDSTS. The neurological phenotypes show rescue upon breeding to a nestin-Cre, which restores KMT2A levels in-utero. Together, our data provide a novel mouse model to explore the therapeutic window in WDSTS. Our work suggests that WDSTS has a window of opportunity extending at least until the mid-point of in-utero development, making WDSTS an ideal candidate for future therapeutic strategies.

2025-08-14 | GSE271275 | GEO

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In-utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome [CUT&Run]

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Project description:In this study, we investigate whether individual granulin subunits derived from the precursor protein progranulin are beneficial. We test this by asking if delivery of a single granulin to the brains of a preclinical model of FTD-GRN Grn-/-mice is sufficient to ameliorate disease-like phenotypes. We performed intracerebroventricular injections of recombinant adeno-associated virus (rAAV2/1) encoding granulin-2, granulin-4, full-length PGRN or GFP in neonatal Grn+/+ and Grn-/- mice. Following AAV injections, mice were aged for 12 months, tissues collected, and analyzed. Quantitative proteomics of the thalamus identified lysosomal function and neuroinflammation as pathways ameliorated by the expression of granulins. Biochemical markers of lysosomal dysfunction, neuroinflammation, and disease-like pathology were assessed via immunoblot and immunohistochemistry. We found that both granulin-2 and granulin-4 rescue markers of lysosomal dysfunction and neuroinflammation in cortical, hippocampal, and thalamic tissue.

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imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

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