ReviewFrontiers in molecular biosciences2023
Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis.
Review in Frontiers in molecular biosciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 9 citations in OpenAlex.
- Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.International journal of molecular sciences · 2026Review
- A Comprehensive Approach to Monitor Endocytosis and Trafficking of G Protein-Coupled Receptors: Tools for Exploring Receptor-Lipid Interaction.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Review
- Cholesterol metabolism: molecular mechanisms, biological functions, diseases, and therapeutic targets.Molecular biomedicine · 2025Review
- Energy metabolism in health and diseases.Signal transduction and targeted therapy · 2025Review
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Authors and funding
2 authors at 2 institutions in 1 country.
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Abstract
The biosynthesis of cholesterol, an essential component of higher eukaryotic membranes, was worked out by Konrad Bloch (and Feodor Lynen) in the 1960s and they received the Nobel Prize around that time in recognition of their pioneering contributions. An elegant consequence of this was a hypothesis proposed by Konrad Bloch (the Bloch hypothesis) which suggests that each subsequent intermediate in the cholesterol biosynthesis pathway is superior in supporting membrane function in higher eukaryotes relative to its precursor. In this review, we discuss an autosomal recessive metabolic disorder, known as Smith-Lemli-Opitz syndrome (SLOS), associated with a defect in the Kandutsch-Russell pathway of cholesterol biosynthesis that results in accumulation of the immediate precursor of cholesterol in its biosynthetic pathway (7-dehydrocholesterol) and an altered cholesterol to total sterol ratio. Patients suffering from SLOS have several developmental, behavioral and cognitive abnormalities for which no drug is available yet. We characterize SLOS as a manifestation of the Bloch hypothesis and review its molecular etiology and current treatment. We further discuss defective Hedgehog signaling in SLOS and focus on the role of the serotonin
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