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Smith-Lemli-Opitz Syndrome

Study reveals temporal gene expression changes in SLOS mouse model, unveiling molecular insights for therapeutic strategies

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A comprehensive transcriptomic analysis of developing brains in a mouse model of Smith-Lemli-Opitz syndrome (SLOS), a disorder caused by mutations in the DHCR7 gene, found temporal changes in gene expression at various developmental stages, shedding light on the molecular dynamics associated with SLOS.

Key findings include:

-Downregulation of the Dhcr7 gene and alterations in cholesterol biosynthesis-related genes were observed.

-Signaling pathways and biological processes were significantly affected, with early time points impacting embryonic development pathways and later time points affecting synaptogenesis-related pathways.

-Neurogenesis-related Gene Ontology terms were enriched at earlier time points.

The study enhances understanding of the molecular dynamics associated with SLOS development, providing insights into potential therapeutic strategies.

Reference
Li A, Tomita H, Xu L. Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome. bioRxiv [Preprint]. 2023 Nov 21:2023.11.21.568116. doi: 10.1101/2023.11.21.568116. PMID: 38045361; PMCID: PMC10690207.

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