• Journal of the Korean Applied Science and Technology
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• v.10 no.2
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• pp.19-27
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• 1993

Levels of sterols including ${\Delta}^7$-dehydrogenase isolated from the tissues of marine animal products (20 species) were determined on 1.5% OV-17 columm of gas-liquid chromatography. The composition showed that the mussels and clams contained various sterols in their tissues : cholesterol, brassicasterol. 24-methylenecholesterol with some minor components such as 22-trans-norcholesta-5,22-dien-3${\beta}$-ol, 22-cis-dehydrocholesterol, 22-trans-dehydrocholesterol, desmosterol, 7-dehydrocholesterol, campesterol, stigmasterol, ${\beta}$-sitosterol, isofucosterol, and 7-dehydrocholesterol which could be converted into vitamin $D_3$ in the skin tissue of animal was present in the muscle of oyster, Crassostrea gigas. On the other hand, the others including gastropoda were predominantly composed of cholesterol. The minor sterols such as 24-methylenecholesterol, stigmasterol and ${\beta}$-sitosterol in the fish intestines are supposed to be derived from dietary plankton. Cholesterol ${\Delta}^7$-dehydrogenase which could convert cholesterol into ${\Delta}^7$-dehydrogenase was present in the pickles of Tricurus haumela intestine.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Molecules and Cells
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• v.19 no.2
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• pp.279-282
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• 2005

In mammals, 7-dehydrocholesterol reductase (Dhcr7) is the terminal enzyme in cholesterol biosynthesis. We previously reported that the Dhcr7 proximal promoter (-179 to +1), which contains CpG islands, is responsible for sterol-mediated expression of the rat gene. In the present study, we examined whether methylation of this region affects the transcriptional activity of the Dhcr7 gene. In vitro DNA methylation of the Dhcr7 promoter and luciferase-reporter assays showed that DNA methylation of the CpG islands suppressed transcription. Furthermore, treatment of the methylated Dhcr7 promoter with the demethylating agent, 5-aza-2'-deoxycytidine (5-Aza-CdR), reversed the suppression of promoter activity. These results indicate that methylation of the CpG islands is an important transcriptional regulatory mechanism in the Dhcr7 promoter.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Journal of the Society of Cosmetic Scientists of Korea
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• v.31 no.2 s.51
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• pp.141-146
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• 2005

Unstable cosmetic active ingredients could rapidly break down in chemical and photochemical process. Therefore, it has become a very important issue to encapsulate active ingredient for the stabilization. 7-Dehydrocholesterol (7-DHC), a precursor of vitamin $D_3$, has been shown to increase levels of protein and mRNA for heat shock protein in normal human epidermal keratinocytes. However, topical dermal application of 7-DHC is restricted due to its poor solubility and chemical unstability. In this study, 7-DHC was incorporated into nano-emulsion (NE), solid lipid nano-particle (SLN), and chitosan coated solid lipid nano-particle (CASLN), respectively. In order to prepare NE and SLN dispersion, high-pressure homogenization at temperature above the melting point of lipid was used Hydrogenated lecithin and polysorbate 60 were used as stabilizer for NE and SLN. CASLN was prepared by high speed homogenizing after adding chitosan solution to the SLN dispersion and showed positively charged particle properties. Decomposition rate of 7-DHC in NE, SLN and CASLN was studied as a function of time at different temperature. Differential scanning calorimetry (DSC) and X-ray diffraction (XRD) studies were performed to characterize state of lipid modification. It appeared that CASLN is the most effective to stabilize 7-DHC and may be used for a useful topical dermal delivery system.

• BMB Reports
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• v.30 no.5
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• pp.370-377
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• 1997

A novel assay method is described for rapid quantitation of reaction rate of sterol ${\Delta}^7$-reductase (${\Delta}^7$-SR) which catalyzes reduction of the ${\Delta}^7$-double bond of sterols. Of six different organ tissues-liver, small intestine, brain, lung, kidney, and testis-. ${\Delta}^7$-SR activity was detected only in liver (2.30 nmol/min/mg protein) and testis (0.11 nmol/min/mg protein). Using a newly developed method which employs diet-induced enzyme proteins and ergosterol as substrate, we assessed both kinetics ($K_m=210\;{\mu}M$, $V_{max}=1.93\;nmol/min/mg$) and inhibition of the rat hepatic ${\Delta}^7$-SR against well-studied cholesterol lowering agents such as triparanol ($IC_{50}=16\;{\mu}M$). 3-$\beta$-[2-(diethylamino)ethoxy]androst-5-en-17-one (U18666A) ($IC_{50}=5.2\;{\mu}M$), and trans-1.4-bis(2-chlorobenzylaminomethyl)cyclohexane dihydrochloride (AY-9944) ($IC_{50}=0.25\;{\mu}M$). Of the three well-known AY-9944-sensitive cholesterogenic enzymes (i.e., ${\Delta}^7$-SR, sterol ${\Delta}^8$-isomerase, and sterol ${\Delta}^14$-reductase). ${\Delta}^7$-SR was found to be the most sensitive enzyme with a noncompetitive inhibition of this compound ($K_i=0.109\;{\mu}M$). Substrate specificity studies of the microsomal ${\Delta}^7$-SR indicate that the relative reaction rate for 7-dehydrocholesterol and ergosterol are 5.6-fold and 1.6-fold higher than that for lathosterol. ${\Delta}^7$-SR activity was also modulated by feeding rats a diet supplemented with 0.5% ergosterol (>2.6-fold) in addition to 5.0% cholestyramine plus 0.1% lovastatin ($\simeq$5.0-fold). Finally, microsomal ${\Delta}^7$-SR was solubilized by 1.5% 3-[3-(cholamidopropyl)-dimethylammonio]-1-propanesulfonate (CHAPS) and enriched on PEG (0~10%) precipitation, which should be suitable for further purification of the enzyme.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.86-90
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.

• Journal of the Society of Cosmetic Scientists of Korea
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• v.50 no.2
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• pp.153-161
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• 2024

Vitamin D is a fat-soluble vitamin that is mainly produced in the skin by UV rays. Along with melatonin, it is a representative chronobiotic substance, and the skin plays an important role in distinguishing between day and night. However, vitamin D cannot be used directly in cosmetics because it is a vitamin that acts as a coenzyme and plays a hormonal role in regulating the expression of various types of genes. Therefore, it was to investigate the skin efficacy of provitamin D (7-dehydrocholesterol), a vitamin D precursor that can be used in cosmetics. Our findings reveal that pro vitamin D can effectively inhibit the expression of tyrosinase, the melanin-producing enzyme, thereby attenuating melanin synthesis. This skin tone regulatory effect has been corroborated in vitro using artificial skin models. Additionally, pro vitamin D demonstrated anti-inflammatory properties by suppressing the expression of TNFa and, upon conversion to vitamin D through UV exposure, it was observed to induce the production of the antimicrobial peptide CAMP (LL-37). The inhibitory effect of pro vitamin D on melanin production appears to be a result of it reducing the UV absorption capacity of melanin, thereby inducing the conversion of pro D to vitamin D. Utilizing pro vitamin D in cosmetic formulations could not only modulate skin tone and enhance skin immunity but also expect to contribute to other cutaneous benefits as anti-aging and barrier function improvement with everyday UV exposure. This multifaceted efficacy positions pro vitamin D as a promising ingredient in advancing the formulation of skin care products.

• Journal of the Korean Society of Food Science and Nutrition
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• v.19 no.6
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• pp.583-590
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• 1990

Free and esterified forms of provitamin D in 30-day-old mele rat skin were isolated and quantitated using silicic acid column chromatography and high-performance liquid chromatography(HPLC) systems. Two forms of free provitamin D(cholesta-5, 7-dien-$3{\beta}$-ol and cholesta-5, 7, 24-trien-$3{\beta}$-ol) and at least thirteen esterified forms of provitamin D were isolated. The average total concentration of provitamin D in the whole skin was $6,056ng/cm^2$. The skin contained $846ng/cm^2$ of free provitamin D and $5,209ng/cm^2$ of esterified provitamin D. The proportion of esterified provitamin D in the skin was 86%.

• Korean Journal of Poultry Science
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• v.18 no.3
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• pp.161-166
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• 1991

This study was conducted to investigate the synthesis of previtamin D$_3$(PreD$_3$), lumisterol$_3$($L_3$) and vitamin $D_3$ ($D_3$) in dorsal skin of 8 week-old broiler chicks irradiated by UV light. The Hubbard line day-old broiler chicks were fed with vitamin D-depleted ration (or 3 weeks and with medium broiler diet for 5 weeks. The 3$\times$3cm area of dorsal skin was defeathered one day before the experiment. The 310nm UV light was utilized to irradiate the dorsal skin, which was separated into epidermis and dermis after irradiation. The irradiated epidermis was extracted with 60% ethyl acetate in n-hexane and PreD$_3$, $L_3$, D$_3$ and 7-dehydrocholesterol (7-DHC) were analyzed by HPLC. When UV light was treated for 0, 90 or 150min. the L$_3$ content in the separated epidermis was 219, 298 or 248ng/$\textrm{cm}^2$, respectively. The irradiation for 90min produced 79ng/$\textrm{cm}^2$ of L$_3$, and the synthesizing rate was 0.9ng/$\textrm{cm}^2$/min. The PreD$_3$ content was 23, 33 or 12ng/$\textrm{cm}^2$ when exposed for 0, 60 or 150min The 10ng/$\textrm{cm}^2$ of PreD$_3$ was produced for 60min. The D$_3$ was generated by 27ng/$\textrm{cm}^2$ when exposed for 90min. The 7-DHC contents were decreased gradually from initial 123 to 35ng/$\textrm{cm}^2$ when exposed for 150 min, showing the rate of disappearance as 0.6ng/$\textrm{cm}^2$/min.