Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and postnatal growth retardation, characteristic face, genital and distal limb anomalies, and intellectual disability. There is a weak correlation between the metabolic disturbances with clinical severity and with genotype, but wide ranges exist within each group. SLOS is infrequently described in adults. The associated malformations are usually treated in infancy and childhood and have only limited influences in adulthood. Main physical problems are scoliosis and pectus formation, sun sensitivity, and disturbed hearing and vision. Rarely adrenal insufficiency is present. Marked cognitive impairment and behavioral problems including self-harm and aggressive outbursts may have a significant impact on quality of life. Cholesterol supplementation decreases sun sensitivity, but cognition and behavior seem to respond less well.

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Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report

Italian Journal of Pediatrics ◽

10.1186/s13052-020-00924-2 ◽

2020 ◽

Vol 46 (1) ◽

Author(s):

Maurizio Delvecchio ◽

Biagio Rapone ◽

Simonetta Simonetti ◽

Simona Fecarotta ◽

Graziana De Carlo ◽

...

Keyword(s):

Cholesterol Biosynthesis ◽

Neurodevelopmental Disorder ◽

Mitochondrial Protein ◽

Dietary Cholesterol ◽

Hdl Cholesterol ◽

Inhibitory Factor ◽

Cholesterol Intake ◽

Opitz Syndrome ◽

Cholesterol Supplementation ◽

Inhibitory Factor 1

Abstract Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrocholesterol. Inhibitory factor 1 (IF1) is a well-known mitochondrial protein. Recently, it has been discovered in the human serum where it is reported to be involved in the HDL-cholesterol intake. Here we report the IF1 presence in the serum of two paediatric SLOS dizygotic twins treated with dietary cholesterol supplementation. Case presentation The patients showed a typical phenotype. They started dietary supplementation with cholesterol when 2 months old. The cholesterol intake was periodically titrated on the basis of weight increase and the twin 1 required a larger supplementation than the twin 2 during the follow-up. When 6.4-year-old, they underwent IF1 assay that was 7-fold increased in twin 2 compared to twin 1 (93.0 pg/ml vs 13.0 pg/ml, respectively). Conclusions We report, for the first time, the presence of circulating IF1 in the serum of SLOS patients, showing different levels among them. Our findings confirm that IF1 could be a novel research target in cholesterol-related disorders and also in SLOS, and could contribute to the general debate on IF1 as a new modulator of cholesterol levels.

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Effects of Nori- and Wakame-enriched meats with or without supplementary cholesterol on arylesterase activity, lipaemia and lipoproteinaemia in growing Wistar rats

British Journal Of Nutrition ◽

10.1017/s000711451100198x ◽

2011 ◽

Vol 106 (10) ◽

pp. 1476-1486 ◽

Cited By ~ 24

Author(s):

Raúl Olivero-David ◽

Adriana Schultz-Moreira ◽

Miguel Vázquez-Velasco ◽

Laura González-Torres ◽

Sara Bastida ◽

...

Keyword(s):

Wistar Rats ◽

Plasma Cholesterol ◽

Dietary Cholesterol ◽

Lipoprotein Metabolism ◽

Density Lipoprotein ◽

Control Group ◽

Vldl Cholesterol ◽

Freeze Dried ◽

Cholesterol Supplementation ◽

Two Parameters

Some seaweeds exert antioxidant and hypocholesterolaemic properties. The effects of diets including restructured meats (RM) containing Wakame (W) or Nori (N) algae on arylesterase (AE) activity and lipoprotein concentration and composition were tested. In the present study, six groups of ten male growing Wistar rats each were fed a mix of 85 % AIN-93M diet and 15 % freeze-dried RM for 35 d. The control group (C) consumed control RM, the W and N groups consumed RM with 5 % W and 5 % N, respectively. The cholesterol-enriched C (CC), W (CW) and N (CN) groups consumed their corresponding basal diets with supplementary cholesterol (2·43 %) and cholic acid (0·49 %). Cholesterol in the diet induced lower (P < 0·001) growth ratios. Both W and N diets significantly increased AE activity. VLDL-cholesterol values were lower in N rats than in W rats. AE activity increased (P < 0·001) in CC and CW rats but not in CN rats compared with their corresponding counterparts. AE was lower (P < 0·05) in the CN group than in the CC and CW groups. The CN diet partially blocked (P < 0·001) the hypercholesterolaemic induction observed in CC and CW diets and reduced TAG levels (at least P < 0·05) with respect to those of CC rats. Although dietary cholesterol supplementation increased total cholesterol, VLDL-cholesterol and (intermediate-density lipoprotein+LDL)-cholesterol (all P < 0·001) in all rats, the CN diet moderately improved the lipoprotein profile of hypercholesterolaemic rats. Changes in AE activity and plasma cholesterol in CN rats but not in CW rats suggest a possible relationship between the two parameters. It is concluded that inclusion of RM enriched with N may be used in hypercholesterolaemic diets to improve lipoprotein metabolism.

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Functional effects of eggs, naturally enriched with conjugated linoleic acid, on the blood lipid profile, development of atherosclerosis and composition of atherosclerotic plaque in apolipoprotein E and low-density lipoprotein receptor double-knockout mice (apoE/LDLR− / − )

British Journal Of Nutrition ◽

10.1017/s0007114507793893 ◽

2007 ◽

Vol 99 (1) ◽

pp. 49-58 ◽

Cited By ~ 26

Author(s):

Magdalena Franczyk-Żarów ◽

Renata B. Kostogrys ◽

Beata Szymczyk ◽

Jacek Jawień ◽

Mariusz Gajda ◽

...

Keyword(s):

Linoleic Acid ◽

Lipid Profile ◽

Conjugated Linoleic Acid ◽

Atherosclerotic Plaque ◽

Knockout Mice ◽

Plasma Cholesterol ◽

Egg Yolk ◽

Double Knockout ◽

Anti Inflammatory ◽

Inflammatory Effect

The objective of this study was to evaluate potential anti-atherogenic properties of hen eggs enriched naturally with conjugated linoleic acid (CLA) isomers (cis-9,trans-11 andtrans-10,cis-12). Eighteen apoE and LDL receptor double-knockout mice (apoE/LDLR− / − ), at the age of 4 months with pre-established atherosclerosis, were randomly assigned to three experimental groups (n6) and fed AIN-93G-based diets for the next 2 months. The experimental diets were: AIN-93G+ CLA-free egg-yolk powder (control); AIN-93G+ CLA-free egg-yolk powder +0·1 % CLA (CLA-supplemented eggs); and AIN-93G+ CLA-enriched egg-yolk powder, providing 0·1 % CLA (CLA-enriched eggs). For assessment of anti-atherogenic properties of CLA-enriched or CLA-supplemented eggs the following criteria were used: (1) serum lipid profile; (2) development of atherosclerosis; and (3) composition of atherosclerotic plaque. CLA-enriched eggs, compared with CLA-supplemented eggs, reduced significantly (P < 0·05) total plasma cholesterol in the mice. At the same time, both CLA-supplemented eggs and CLA-enriched eggs tended to decrease the size of atherosclerotic plaque in aortic roots of mice. Most importantly, atherosclerotic plaques of mice fed CLA-enriched eggs showed significantly (P < 0·05) reduced number of atherogenic macrophages and increased area occupied by smooth muscle cells in atherosclerotic lesions. In conclusion, CLA-enriched eggs exerted an anti-inflammatory effect more effectively than CLA-supplemented eggs. This anti-inflammatory effect can be considered their major functional claim that warrants further exploitation.

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Effect of supplementation of different boron and copper levels to layer diets on performance, egg yolk and plasma cholesterol

Journal of Trace Elements in Medicine and Biology ◽

10.1016/j.jtemb.2012.09.005 ◽

2013 ◽

Vol 27 (2) ◽

pp. 132-136 ◽

Cited By ~ 10

Author(s):

Osman Olgun ◽

Oktay Yazgan ◽

Yusuf Cufadar

Keyword(s):

Plasma Cholesterol ◽

Egg Yolk

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Cholesterol supplementation enhances growth of phallus in Smith-Lemli-Opitz syndrome

Genetics in Medicine ◽

10.1097/00125817-199901000-00013 ◽

1999 ◽

Vol 1 (2) ◽

pp. 42-42

Author(s):

M B Irons ◽

T L Stewart ◽

A Sadeghi-Nehad

Keyword(s):

Opitz Syndrome ◽

Cholesterol Supplementation

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EFFECT OF AN ANTIBIOTIC ON LIPID FRACTIONS IN PLASMA AND EGG YOLK OF LAYING HENS

Canadian Journal of Biochemistry and Physiology ◽

10.1139/o63-243 ◽

1963 ◽

Vol 41 (10) ◽

pp. 2171-2175

Author(s):

P. J. Lupien ◽

F. A. Vandenheuvel ◽

W. G. Hunsaker ◽

G. V. Hatina

Keyword(s):

Egg Production ◽

Species Differences ◽

Laying Hens ◽

Plasma Cholesterol ◽

Egg Yolk ◽

Human Beings ◽

Cholesterol Levels ◽

Lipid Fractions ◽

Egg Yolks ◽

Yolk Cholesterol

Supplementation of the basal ration of laying hens with 0.001, 0.005, and 0.01% neomycin sulphate did not produce any significant changes in the weight of the hens, their eggs, or egg yolks, nor did it alter egg production. Supplemental neomycin caused no significant changes in levels of plasma cholesterol. Plasma and yolk lipid levels varied considerably within as well as between groups of hens. Plasma squalene/plasma cholesterol and yolk squalene/yolk cholesterol ratios were approximately the same, indicating the presence of 250 times more cholesterol than squalene. Plasma squalene/yolk squalene and plasma cholesterol/yolk cholesterol ratios showed that both components were approximately 13 times more concentrated in the yolk than in the plasma. The variable plasma cholesterol levels for rats, rabbits, mice, human beings, as well as the laying hen, treated with neomycin, are suggestive of species differences in response.

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