Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome caused by mutations in the 3beta-hydroxysterol Delta(7)-reductase gene (DHCR7). SLOS patients have decreased cholesterol and increased 7-dehydrocholesterol (7-DHC) levels. Dietary cholesterol supplementation improves systemic biochemical abnormalities; however, because of the blood-brain barrier, the central nervous system (CNS) is not treated. Simvastatin therapy has been proposed as a means to treat the CNS. Mice homozygous for a null disruption of Dhcr7, Dhcr7(Delta3-5/Delta3-5), die soon after birth, thus they cannot be used to study postnatal development or therapy. To circumvent this problem, we produced a hypomorphic SLOS mouse model by introducing a mutation corresponding to DHCR7(T93M). Both Dhcr7(T93M/T93M) and Dhcr7(Delta3-5/T93M) mice are viable. Phenotypic findings in Dhcr7(T93M/Delta3-5) mice include CNS ventricular dilatation and two to three syndactyly. Biochemically, both Dhcr7(T93M/T93M) and Dhcr7(T93M/Delta3-5) mice have elevated tissue 7-DHC levels; however, the biochemical defect improved with age. This has not been observed in human patients, and is due to elevated Dhcr7 expression in mouse tissues. Dietary cholesterol therapy improved sterol profiles in peripheral, but not CNS tissues. However, treatment of Dhcr7(T93M/Delta3-5) mice with simvastatin decreased 7-DHC levels in both peripheral and brain tissues. Expression of Dhcr7 increased in Dhcr7(T93M/Delta3-5) tissues after simvastatin therapy, c…
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Dhcr7WT/T93M mice are used as controls for experiments with Dhcr7Δ3-5/T93M mice.
“As previously reported, Dhcr7WT/T93M mice are used as controls for experiments with Dhcr7Δ3-5/T93M mice (Correa-Cerro et al., 2006).”
From Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk (2022) · cites this paper as Correa-Cerro et al., 2006
Dhcr7Δ3-5/T93M mice are heterozygous for a Dhcr7 targeting vector containing a neomycin insertion that deletes Dhcr7 exons III, IV and part of V, and carry a dinucleotide mutation in codon 89.
“are heterozygous for a Dhcr7 targeting vector containing a neomycin insertion, which results in deletion of Dhcr7 exons III, IV and part of V, along with a dinucleotide mutation in codon 89 (Correa-Cerro et al., 2006; Wassif et al., 2001).”
From Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk (2022) · cites this paper as Correa-Cerro et al., 2006
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- Authors
- Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J., & Porter, F. D.
- Affiliations
- National Institutes of Health (US)
- Kennedy Krieger Institute (US)
- Saint Louis University (US)
- Corresponding author
- Correa-Cerro, Lina S.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-01-30
- Volume
- 15
- Issue
- 6
- Pages
- 839-851
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2103992878
- Cited by
- 75
- References
- 53
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 5 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 4 · 2019: 4 · 2018: 3 · 2017: 4 · 2016: 5 · 2015: 5 · 2014: 4 · 2013: 4 · 2012: 3
- FWCI
- 4.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- National Institutes of Health
- National Eye Institute (EY-07361, R01EY007361)
- Topics
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- Smith-Lemli-Opitz syndrome, DHCR7, 7-dehydrocholesterol, cholesterol deficiency, ventriculomegaly, syndactyly, dietary cholesterol supplementation, gene expression
- MeSH terms
- Alleles, Animals, Cells, Cultured, Crosses, Genetic, Disease Models, Animal, Female, Methionine, Mice, Inbred C57BL, Magnetic Resonance Spectroscopy, Phenotype, Threonine, Mutagenesis, Site-Directed, 3T3 Cells, Smith-Lemli-Opitz Syndrome, Simvastatin, Amino Acid Substitution, Oxidoreductases Acting on CH-CH Group Donors, Mice, Embryonic Stem Cells
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