ArticleDisease models & mechanisms2022
Sterol dysregulation in Smith-Lemli-Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk.
Article in Disease models & mechanisms, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 11 citations in OpenAlex.
- Sterol pathway disruption in pregnancy: a link to autism.Molecular psychiatry · 2026Article
- Compartmentalization of DHCR7 links 7-DHC metabolism to B-ring unsaturated steroid synthesis in the equine fetal gonad.Endocrinology · 2026Article
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- Optics-free spatial genomics for mapping mammalian brain aging by IRISeq.Nature neuroscience · 2026Article
- Macrophage signaling and function are regulated by distinct sterol biochemistries.Journal of lipid research · 2026Article
- Loss of 7-Dehydrocholesterol Reductase mediated cholesterol biosynthesis activates IRF3 and inhibits control ofbioRxiv : the preprint server for biology · 2026Article
- Post-lanosterol inhibition profile based classification of commonly used prescription medications.Translational psychiatry · 2025Article
- Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.Human molecular genetics · 2025Article
- Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.Journal of proteome research · 2025Article
- Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.International journal of molecular sciences · 2025Review
- Dishevelled localization and function are differentially regulated by structurally distinct sterols.iScience · 2025Article
- Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.Biomolecules · 2025Article
- Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.Molecular genetics and metabolismArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Owing to the need for de novo cholesterol synthesis and cholesterol-enriched structures within the nervous system, cholesterol homeostasis is critical to neurodevelopment. Diseases caused by genetic disruption of cholesterol biosynthesis, such as Smith-Lemli-Opitz syndrome, which is caused by mutations in 7-dehydrocholesterol reductase (DHCR7), frequently result in broad neurological deficits. Although astrocytes regulate multiple neural processes ranging from cell migration to network-level communication, immunological activation of astrocytes is a hallmark pathology in many diseases. However, the impact of DHCR7 on astrocyte function and immune activation remains unknown. We demonstrate that astrocytes from Dhcr7 mutant mice display hallmark signs of reactivity, including increased expression of glial fibrillary acidic protein (GFAP) and cellular hypertrophy. Transcript analyses demonstrate extensive Dhcr7 astrocyte immune activation, hyper-responsiveness to glutamate stimulation and altered calcium flux. We further determine that the impacts of Dhcr7 are not astrocyte intrinsic but result from non-cell-autonomous effects of microglia. Our data suggest that astrocyte-microglia crosstalk likely contributes to the neurological phenotypes observed in disorders of cholesterol biosynthesis. Additionally, these data further elucidate a role for cholesterol metabolism within the astrocyte-microglia immune axis, with possible implications in other neurological diseases.
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