1.Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.
Ji Young CHOI ; Song Ee KIM ; Sang Eun LEE ; Soo Chan KIM
Yonsei Medical Journal 2018;59(2):341-344
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.
Abnormalities, Multiple/*genetics
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Base Sequence
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Child, Preschool
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Female
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Heterozygote
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Humans
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Keratoderma, Palmoplantar/genetics
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Lipid Droplets/ultrastructure
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Mutation, Missense/*genetics
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Skin/pathology/ultrastructure
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Syndrome
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TRPV Cation Channels/*genetics
2.New observations on the effect of camellia oil on fatty liver disease in rats.
Journal of Zhejiang University. Science. B 2020;21(8):657-667
Camellia oil has become an important plant oil in China in recent years, but its effects on non-alcoholic fatty liver disease (NAFLD) have not been documented. In this study, the effects of camellia oil, soybean oil, and olive oil on NAFLD were evaluated by analyzing the fatty acid profiles of the plant oils, the serum lipids and lipoproteins of rats fed different oils, and by cytological and ultrastructural observation of the rats' hepatocytes. Analysis of fatty acid profiles showed that the polyunsaturated fatty acid (PUFA) n-6/n-3 ratio was 33.33 in camellia oil, 12.50 in olive oil, and 7.69 in soybean oil. Analyses of serum lipids and lipoproteins of rats showed that the levels of total cholesterol and low-density lipoprotein cholesterol in a camellia oil-fed group (COFG) were lower than those in an olive oil-fed group (OOFG) and higher than those in a soybean oil-fed group (SOFG). However, only the difference in total cholesterol between the COFG and SOFG was statistically significant. Cytological observation showed that the degree of lipid droplet (LD) accumulation in the hepatocytes in the COFG was lower than that in the OOFG, but higher than that in the SOFG. Ultrastructural analysis revealed that the size and number of the LDs in the hepatocytes of rats fed each of the three types of oil were related to the degree of damage to organelles, including the positions of nuclei and the integrity of mitochondria and endoplasmic reticulum. The results revealed that the effect of camellia oil on NAFLD in rats was greater than that of soybean oil, but less than that of olive oil. Although the overall trend was that among the three oil diets, those with a lower n-6/n-3 ratio were associated with a lower risk of NAFLD, and the effect of camellia oil on NAFLD was not entirely related to the n-6/n-3 ratio and may have involved other factors. This provides new insights into the effect of oil diets on NAFLD.
Animals
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Camellia/chemistry*
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Fatty Acids/analysis*
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Hepatocytes/ultrastructure*
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Lipid Droplets/physiology*
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Lipids/blood*
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Male
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Non-alcoholic Fatty Liver Disease/pathology*
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Plant Oils/administration & dosage*
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Rats
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Rats, Sprague-Dawley
3.The lipid droplet: A conserved cellular organelle.
Protein & Cell 2017;8(11):796-800
The lipid droplet (LD) is a unique multi-functional organelle that contains a neutral lipid core covered with a phospholipid monolayer membrane. The LDs have been found in almost all organisms from bacteria to humans with similar shape. Several conserved functions of LDs have been revealed by recent studies, including lipid metabolism and trafficking, as well as nucleic acid binding and protection. We summarized these findings and proposed a hypothesis that the LD is a conserved organelle.
Animals
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Bacteria
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metabolism
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ultrastructure
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Biological Evolution
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Cholesterol Esters
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metabolism
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Humans
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Lipid Droplets
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chemistry
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metabolism
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ultrastructure
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Lipid Metabolism
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genetics
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Nucleic Acids
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metabolism
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Peptide Initiation Factors
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chemistry
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metabolism
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Protein Binding
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RNA-Binding Proteins
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chemistry
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metabolism
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Ribosome Subunits
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chemistry
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metabolism
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Triglycerides
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metabolism
4.Observation of prime position and driving zones in process of tuberous root expanding and expression analysis of phytohormone relative genes in Rehmannia glutinosa.
Peng-fei WANG ; Xin-yu LI ; Ming-jie LI ; Lin LIU ; Xiao-Ran WANG ; Feng-Qing WANG ; Chun-qi LI ; Xin-Jian CHEN ; Zhong-yi ZHANG
China Journal of Chinese Materia Medica 2014;39(17):3245-3253
In order to study the development characteristics of Rehmannia glutinosa tuberous root expansion and reveal the regulation mechanism of the genes related to hormones in this process, R. glutinosa "wen-85" was used as the experimental material in this study. R. glutinosa tuberous roots of different developmental stages were collected to observe phenotype and tissue morphology using resin semi-thin sections method. The genes related to hormone biosynthesis and response were chosen from the transcriptome of R. glutinosa, which was previously constructed by our laboratory, their expression levels at different development stages were measured by real-time quantitative PCR. The results showed that the root development could be divided into six stages: seeding, elongation, pre-expanding, mid-expanding, late-expanding and maturity stage. The anatomic characteristics indicated that the fission of secondary cambium initiated the tuberous root expansion, and the continuous and rapid division of secondary cambium and accessory cambium kept the sustained and rapid expansion of tuberous root. In addition, a large number oleoplasts were observed in root on the semi-thin and ultra-thin section. The quantitative analysis suggested that the genes related to biosynthesis and response of the IAA, CK, ABA,ethylene, JA and EB were up-regulated expressed, meanwhile, GA synthesis and response genes were down-regulated expressed and the genes of GA negative regulation factors were up-regulated expressed. The maximum levels of most genes expression occurred in the elongation and pre-expansion stage, indicating these two stages were the key periods to the formation and development of tuberous roots. Oleoplasts might be the essential cytological basis for the formation and storage of the unique medicinal components in R. glutinosa. The results of the study are helpful for explanation of development and the molecular regulation mechanism of the tuberous root in R. glutinosa.
Gene Expression Regulation, Developmental
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drug effects
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genetics
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Gene Expression Regulation, Plant
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drug effects
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genetics
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Lipid Droplets
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metabolism
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ultrastructure
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Microscopy, Electron, Transmission
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Plant Growth Regulators
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biosynthesis
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pharmacology
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Plant Proteins
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genetics
;
metabolism
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Plant Roots
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genetics
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growth & development
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metabolism
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Rehmannia
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genetics
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growth & development
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metabolism
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Reverse Transcriptase Polymerase Chain Reaction
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Time Factors