Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome

Rooij, Arno van; Nijenhuis, A. A.; Wijburg, Frits A.; Schutgens, R. B. H.

doi:10.1023/a:1005355026186

Cited by 13 publications

(5 citation statements)

References 8 publications

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“…The BBB keeps plasma cholesterol levels from affecting the levels in the brain and vice versa [Bjorkhem and Meaney, 2004]. Dietary cholesterol supplementation does not appear to increase cholesterol levels in the cerebrospinal fluid (CSF) in patients with SLOS, and the CSF sterol profile of low cholesterol and high 7DHC and 8DHC is similar to that in the blood [van Rooij et al, 1997]. In another investigation, two patients had no improvement in the CSF sterol [(7DHC + 8DHC)/cholesterol] ratio from dietary cholesterol supplementation alone [Jira et al, 2000].…”

Section: Biochemical Treatments In Slosmentioning

confidence: 99%

Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

Svoboda

Christie

Eroğlu

et al. 2012

American J of Med Genetics Pt C

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies and surgical interventions, as well as directions for future therapies and treatment research.

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Section: Biochemical Treatments In Slosmentioning

confidence: 99%

Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

Svoboda

Christie

Eroğlu

et al. 2012

American J of Med Genetics Pt C

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“…3) (e.g. 42), DHCR7 enzyme activity measurements in cells from patients using [ 3 H]‐labelled 7‐dehydrocholesterol (42) or the ergosterol‐to‐brassicasterol conversion assay (43), and mutation analysis by sequence analysis of the coding exons and flanking intron sequences of the DHCR7 gene (32, 39, 44).…”

Section: Smith–lemli–opitz Syndromementioning

confidence: 99%

Inherited disorders of cholesterol biosynthesis

Waterham

2002

Clinical Genetics

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For many decades, cholesterol has been considered an important structural component of cellular membranes and myelin, and a precursor of steroid hormones and bile acids. Moreover, the recognition that high cholesterol levels (hypercholesterolemia) are a major risk factor for the development of heart disease and atherosclerosis has gained enormous attention not only in medicine, medical and pharmacological research, but also from the general public. The discovery of a crucial role of cholesterol in human embryogenesis and the recent identification of a number of inherited disorders of cholesterol biosynthesis also show that low cholesterol levels (hypocholesterolemia) may have severe consequences for human health and development. In the past few years, seven distinct inherited disorders have been linked to different enzyme defects in the cholesterol biosynthetic pathway by the finding of abnormally increased levels of intermediate metabolites in patients followed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities.

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“…In fact, it has been estimated that the number of structural variations in lipids is >10 5 . For instance, sterol concentration ranges are estimated to vary by 6 orders of magnitude in plasma, and namely, cholesterol concentration is almost 10 3 times higher in blood than in cerebrospinal fluid . Regarding the same biofluid and different lipid species, the estimated cholesterol concentration is 10 2 and 10 4 times higher compared to arachidonic acid and thromboxane concentrations, respectively, in blood. , Thus, the magnitude diversity of concentrations of different lipids in a certain biofluid or tissue as well as the wide range of abundance of the same lipid in different samples is evident.…”

Section: Lipidomics Analysismentioning

confidence: 99%

Lipidomics Insights in Health and Nutritional Intervention Studies

Ibáñez

Mouhid

Reglero

et al. 2017

J. Agric. Food Chem.

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Lipids are among the major components of food and constitute the principal structural biomolecules of human body together with proteins and carbohydrates. Lipidomics encompasses the investigation of the lipidome, defined as the entire spectrum of lipids in a biological system at a given time. Among metabolomics technologies, lipidomics has evolved due to the relevance of lipids in nutrition and their well-recognized roles in health. Mass spectrometry advances have greatly facilitated lipidomics, but owing to the complexity and diversity of the lipids, lipidome purification and analysis are still challenging. This review focuses on lipidomics strategies, applications, and achievements of studies related to nutrition and health research.

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Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome

Cited by 13 publications

References 8 publications

Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders

Inherited disorders of cholesterol biosynthesis

Lipidomics Insights in Health and Nutritional Intervention Studies

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