scholarly journals Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome

2009 ◽  
Vol 152A (1) ◽  
pp. 91-95 ◽  
Author(s):  
Elaine Tierney ◽  
Sandra K. Conley ◽  
Halima Goodwin ◽  
Forbes D. Porter
Keyword(s):  
Dietary Cholesterol ◽  
Behavioral Effects ◽  
Short Term ◽  
Opitz Syndrome ◽  
Cholesterol Supplementation

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

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.

Gender-based differences in the effect of dietary cholesterol in rats

2012 ◽  
Vol 7 (6) ◽  
pp. 980-986 ◽  
Author(s):  
Milan Marounek ◽  
Zdeněk Volek ◽  
Eva Skřivanová ◽  
Marian Czauderna
Keyword(s):  
Dietary Cholesterol ◽  
Female Rats ◽  
Male Rats ◽  
Cholesterol Concentration ◽  
Hepatic Cholesterol ◽  
Bile Acid Concentration ◽  
Male And Female ◽  
Relative Expression ◽  
Male And Female Rats ◽  
Cholesterol Supplementation

AbstractMale and female rats were fed diets supplemented with cholesterol and palm fat at 10 and 50 g/kg, respectively; serum, hepatic tissue and faeces were analysed. Cholesterol supplementation significantly increased serum and hepatic cholesterol both in male and female rats. Male and female rats fed the cholesterol-containing diet differed significantly in serum cholesterol concentration (2.48 µmol/mL vs 2.92 µmol/mL), concentration of serum triacylglycerols, but not in hepatic cholesterol concentration. The serum and hepatic cholesterol concentrations correlated non-significantly in male rats (r=0.491; P=0.063) and significantly in female rats (r=0.818; P<0.001). Cholesterol supplementation non-significantly decreased relative expression of the hepatic LDL receptor gene and significantly increased relative expression of the hepatic cholesterol 7α-hydroxylase gene in rats of both genders. The faeces of control rats contained similar amounts of cholesterol and bile acids. Cholesterol supplementation increased cholesterol concentration 10 times in the faeces of male rats and 12 times in faeces of female rats. The corresponding increases of bile acid concentration were much lower (83% in male rats and 108% in female rats). It can be concluded that the effects of cholesterol supplementation were more pronounced in female than in male rats.

Smith-Lemli-Opitz Syndrome

2016 ◽  
Author(s):  
Christopher Cunniff ◽  
Raoul C. Hennekam
Keyword(s):  
Behavioral Problems ◽  
Postnatal Growth ◽  
Clinical Severity ◽  
Metabolic Disturbances ◽  
Physical Problems ◽  
Associated Malformations ◽  
Opitz Syndrome ◽  
Cholesterol Supplementation ◽  
Sun Sensitivity ◽  
And Behavior

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.

scholarly journals Short-term metreleptin treatment of patients with anorexia nervosa: rapid on-set of beneficial cognitive, emotional, and behavioral effects

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Gabriella Milos ◽  
Jochen Antel ◽  
Lisa-Katrin Kaufmann ◽  
Nikolaus Barth ◽  
Antonia Koller ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Behavioral Effects ◽  
Short Term

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

2011 ◽  
Vol 106 (10) ◽  
pp. 1476-1486 ◽  
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.

Effects of dietary interventions on glomerular pathophysiology

1990 ◽  
Vol 258 (1) ◽  
pp. F1-F8 ◽  
Author(s):  
J. R. Diamond
Keyword(s):  
Dietary Cholesterol ◽  
Cell Types ◽  
Experimental Models ◽  
Dietary Interventions ◽  
Clinical Literature ◽  
Filtration Apparatus ◽  
Fatty Acid Deficiency ◽  
Cholesterol Supplementation ◽  
And Function ◽  
Dietary Modifications

Numerous dietary interventions have been utilized to modify the course of and further elucidate the pathophysiological processes involved in experimental progressive glomerulopathy. Alterations in dietary constituents can affect the glomerular capillary hemodynamic parameters, the permselectivity features of the filtration apparatus, as well as the morphology and function of resident glomerular cells and influxing bone marrow-derived monocytes. The three dietary modifications examined in this review are protein restriction, dietary cholesterol supplementation, and essential fatty acid deficiency. These maneuvers have been chosen from the myriad dietary interventions in the experimental and clinical literature and are not meant to be all inclusive. The implementation of these three dietary modifications, in experimental models of glomerular disease, amply demonstrate the concept of a stratified alteration in glomerular structure and function. Since perturbed glomerular pathobiology, involving the above-mentioned structures and cell types, is believed to contribute to progressive glomerulopathy, a review of these seemingly diverse, yet perhaps, interrelated responses to dietary modifications will only aid us in understanding this process.

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