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Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Clinical features: This disorder is caused by a deficiency of 7-dehydrocholesterol reductase. Smith-Lemli-Opitz syndrome has been associated with low maternal serum unconjugated estriol levels less than 0.25 MoM on second-trimester maternal serum screening. The clinical manifestations of this disorder include intellectual disability, poor growth, and characteristic phenotypic abnormalities, including microcephaly, characteristic facies, hypospadias, and polysyndactyly.
Micrognathia
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Smith–Lemli–Opitz Syndrome (SLOS): A deficiency of 7-dehydrocholesterol reductase is a causative factor of the SLO syndrome. There is evidence of pre-natal onset of growth restriction. Ambiguous genitals and sex reversal in male fetuses are seen. Polydactyly and microcephaly are often present. Mental retardation is present. Inheritance is autosomal recessive.
Associated disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
In this disorder there is an absence or a deficiency of the enzyme 7-dehydrocholesterol reductase. This is needed to convert 7-dehydrocholesterol into cholesterol. Cholesterol is required when an embryo is developing, and also for optimal growth and brain development after birth.
Can trophectoderm RNA analysis predict human blastocyst competency?
Published in Systems Biology in Reproductive Medicine, 2019
Panagiotis Ntostis, Georgia Kokkali, David Iles, John Huntriss, Maria Tzetis, Helen Picton, Konstantinos Pantos, David Miller
Functional annotation clustering of down-regulated RNAs in incompetent blastocysts was undertaken using the DAVID bioinformatics resources v6.8 (please see Μaterials and Μethods supplementary file for full details), revealing 4 clusters with enrichment scores > 2.0 (3.11 to 8.53). The first cluster (enrichment score: 8.53) included ontological terms involved mainly in steroid and sterol biosynthesis and metabolism, as well as oxidation-reduction (Supplemental Table 3). The second and third clusters with enrichment scores 5.79 and 5.19, involved steroid and cholesterol biosynthesis, respectively. The fourth cluster with enrichment score 3.11, also involved steroid biosynthesis, oxidation-reduction and nicotinamide adenine dinucleotide phosphate (NADP) metabolism (Supplemental Table 3). In contrast, transcripts more highly expressed in incompetent blastocysts, showed low enrichment scores (≤0.4) for terms including integral membrane component and transmembrane region that were not significant. Eight of the 36 down-regulated transcripts encode enzymes involved in cholesterol biosynthesis, including EBP, Sterol-C5-Desaturase (SC5D), 7-Dehydrocholesterol Reductase (DHCR7), and other transcripts important in steroidogenesis, such as CYP11A1 and HSD17B1 (Figure 3).
Pomegranate juice supports therapeutic –treatment of atorvastatin against maternal hypercholesterolemia induced retinopathy of rat offspring
Published in Egyptian Journal of Basic and Applied Sciences, 2021
Hassan IH EL-Sayyad, Hebattallah A Abd El-Gallil, Heba A El-Ghawet
Dietary high cholesterol levels were also contributed to the damage of retinal cells [10]. Rabbit ingested a cholesterol rich diet, exhibited an increased level of 27-hydroxycholesterol (27-OHC) in the hippocampus and pointed out the onset of Alzheimer’s disease (AD) [11]. Also, mutations in the 7-dehydrocholesterol reductase (DHCR7) have resulted in excessive accumulation of 7-dehydrocholesterol and increased retinal degeneration [12].
Silver nanoparticle-induced expression of proteins related to oxidative stress and neurodegeneration in an in vitro human blood-brain barrier model
Published in Nanotoxicology, 2019
Asif Manzoor Khan, Barbara Korzeniowska, Vladimir Gorshkov, Muhammad Tahir, Henrik Schrøder, Lilian Skytte, Kaare Lund Rasmussen, Surabhi Khandige, Jakob Møller-Jensen, Frank Kjeldsen
Other pathways affected by AgNPs exposure were the cholesterol biosynthesis and lipid homeostasis pathways, which were both upregulated. Upregulation of these pathways has been associated with Alzheimer’s disease (AD) and other neurodegenerative diseases. It has been reported that cholesterol levels constantly increase during the clinical progression of Alzheimer’s disease (Zhang and Liu 2015; Cutler et al. 2004). The upregulation of 7-dehydrocholesterol reductase (DHCR7), an important enzyme in cholesterol synthesis, leads to increased production of cholesterol and alterations in cholesterol metabolism, leading to various brain diseases (Zhang et al. 2018; Hughes et al. 2013; Witsch-Baumgartner, Loffler, and Utermann 2001). Cellular exposure to AgNPs induces increased turnover of DHCR7, which in turn deregulates cholesterol metabolism (Goedeke and Fernandez-Hernando 2014). This suggests that AgNPs exposure may result in activation of similar pathways to those active pathways reported under conditions of neurotoxicity and neurodegeneration. Other proteins affected by AgNPs exposure is that of ABC (ATP-binding cassette) transporters involved in lipid homeostasis. Human ABC transporters are found in different cell types including the endothelial cells of the BBB and brain parenchymal cells. They transport molecules across lipid membranes and mediate a critical role in cellular homeostasis (TER Beek, Guskov, and Slotboom 2014; Abuznait and Kaddoumi 2012). In many recent studies, ABC transporters have been implicated in several CNS and non-CNS related diseases (Abuznait and Kaddoumi 2012; Pereira et al. 2018; Weiss et al. 2009). Alteration in the expression and functional activity of ABC transporters may contribute to the aggregation of amyloid β-peptide (Aβ) in the brain and/or endothelial cells, leading to increased risk of developing AD by failure to protect the BBB (Nicolazzo and Mehta 2010; Abuznait et al. 2011; Rapposelli, Digiacomo, and Balsamo 2009). In this context, we may add that AgNPs-induced toxicity alters the level of the ABC transporters in the BBB, which can in turn be a risk factor for neurodegenerative diseases.