2.Studies on association of HSL repeat polymorphism and aerobic endurance.
Xiao-hui XIA ; Hui-yun XIA ; Jie GUO ; Kang-chao LIU ; Yang HU
Chinese Journal of Applied Physiology 2015;31(1):93-96
OBJECTIVETo investigate the relationship between hormone sensitive lipase (HSL) gene polymorphism and aerobic endurance.
METHODSThe (CA)n repeats polymorphism genotypes in HSL intro 6 of 123 outstanding long distance runners and 127 controls of Han nationality in northern China were analyzed by PCR and Fluorescence labeled STR-genescan. Repeat polymorphisms were grouped according to segmentation point and alleles were divided into long or short chains. Chi-square test was used to analyze the frequency difference of allelic and genotypic between athlete and control groups.
RESULTS(CA) n repeats polymorphism in HSL gene was total of 9 different repeat number of alleles, which composed of 25 different genotypes. The chi-square test result showed that when compared short and long chain alleles split by 4, there was a significant difference (P <0.05) of genotype distribution in 5/10 km group compared with control. Compared the rest groups with control, there was no significant difference.
CONCLUSIONCompared short and long chain alleles split by 4, the LL genotype of (CA)n of HSL was associated with aerobic endurance and it might be a molecular marker of elite 5/10 km long distance runners.
Alleles ; China ; Ethnic Groups ; Genotype ; Humans ; Physical Endurance ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sterol Esterase ; genetics
3.Study on the characteristics of tissue expression of hormone sensitive lipase and triacylglycerol hydrolase in pigs.
Qi WANG ; Li-Hong ZHANG ; Li-Jie ZHANG ; Gong-She YANG
Chinese Journal of Biotechnology 2007;23(5):831-835
The specific expression of TGH and HSL genes in different tissues of Bamei pig was investigated by RT-PCR and Western blot in this study. The result of RT-PCR showed that the expression of HSL could be detected in all these seven tissues examined, and which was higher expressed in fat, lower in heart, liver, lung, spleen and kidney. Expression of TGH gene could also be detected in seven tissues, and higher in liver and fat, lower in heart and kidney and lowest in spleen and lung. The result of Western blot showed that, HSL gene was highest expressed in epiploica fat and subcutaneous fat, higher in other tissues, but couldn' t be detected in kidney. Expression of TGH was detected in epiploica fat, subcutaneous fat, liver, lung and spleen, and highest in fat and liver, but it hadn't be found in heart and kidney. These results suggested that both HSL and TGH could be regulated by post-transcriptional, and their function was involved in different tissues.
Animals
;
Gene Expression Regulation
;
Lipase
;
genetics
;
metabolism
;
Male
;
Sterol Esterase
;
genetics
;
metabolism
;
Swine
;
Tissue Distribution
4.Effects of Portulaca Oleracea L. Extract on Lipolysis and Hormone Sensitive Lipase (HSL) Gene Expression in 3T3-L1 Adipocytes.
Mak Soon LEE ; Chong Tai KIM ; Chul Jin KIM ; Young Jin CHO ; Yangha KIM
The Korean Journal of Nutrition 2006;39(8):742-747
This study was performed to investigate the lipolytic effects of Portulaca oleracea L. extract in 3T3-L1 adipocytes. The Portulaca oleracea L. was extracted with extrusion method using twin-screw extruder under 58~60 rpm screw speed, 4~5 kg/hr feed rate, 140degrees C extrusion temperature. The lipolytic action of Portulaca oleracea L. extract was estimated by measuring the amount of glycerol and free fatty acids (FFA) released from 3T3-L1 adipocytes and by measuring the cellular lipid content in 3T3-L1 adipocytes. The hormone sensitive lipase (HSL) mRNA level was analyzed using quantitative real-time PCR. The Portulaca oleracea L. extract at 1 to 100 microgram/ml suppressed lipid accumulation. The release of glycerol and FFA into the medium, and the mRNA level of HSL were significantly increased by the addition of Portulaca oleracea L. extract at dose-dependent manner. In conclusion, the Portulaca oleracea L. extract was suggested to have the lipolytic effect through release of lipolytic products (FFA and glycerol) of triacylglyceride to the culture medium and suppression of lipid accumulation via up-regulation of HSL gene expression in 3T3-L1 adipocytes.
Adipocytes*
;
Fatty Acids, Nonesterified
;
Gene Expression*
;
Glycerol
;
Lipolysis*
;
Portulaca*
;
Real-Time Polymerase Chain Reaction
;
RNA, Messenger
;
Sterol Esterase*
;
Up-Regulation
5.Wolman disease: report of a case.
Chinese Journal of Pathology 2013;42(4):276-277
Adrenal Glands
;
pathology
;
Codon, Nonsense
;
Exons
;
Female
;
Humans
;
Infant
;
Liver
;
pathology
;
Spleen
;
pathology
;
Sterol Esterase
;
genetics
;
Tomography, X-Ray Computed
;
Wolman Disease
;
diagnostic imaging
;
genetics
;
pathology
6.Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea.
Hye Suk HWANG ; Jung Hee HWANG ; Hyun Sup KIM ; Nam Keun KIM ; Se Jae KIM ; Chung Choo LEE ; Ki Wha CHUNG
Journal of Genetic Medicine 1998;2(2):65-70
Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2 of human LAL gene changing of codon -6 of prepeptide from threonine to proline. The Thr-6Pro mutation was detected by the Hae III restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP). We analyzed the mutation in subjects with 221 unrelated randomly selected control samples and 86 patients with familial hypercholesterolemia (FH) in Korea. We observed that mutation is present with high frequency in Korea compared to other populations studied previously. The frequency of PP homozygote in the FH group was observed considerably higher than that of control. However, there was no significant difference of genotype frequency between two groups. These results, together with the fact that plasma lipids and lipoproteins levels between genotypes showed no statistical difference, suggest that the Thr-6Pro mutation in the LAL gene may have no association with the increased risk of FH development.
Codon
;
Exons
;
Genotype
;
Homozygote
;
Humans*
;
Hyperlipoproteinemia Type II*
;
Korea*
;
Lipoproteins
;
Mutation, Missense*
;
Plasma
;
Polymorphism, Restriction Fragment Length
;
Proline
;
Sterol Esterase*
;
Threonine
7.Antiobesity effects of the water-soluble fraction of the ethanol extract of Smilax china L. leaf in 3T3-L1 adipocytes.
Yun Hwan KANG ; Kyoung Kon KIM ; Dae Jung KIM ; Myeon CHOE
Nutrition Research and Practice 2015;9(6):606-612
BACKGROUND/OBJECTIVES: Several medicinal properties of Smilax china L. have been studied including antioxidant, anti-inflammatory, and anti-cancer effects. However, the antiobesity activity and mechanism by which the water-soluble fraction of this plant mediates its effects are not clear. In the present study, we investigated the lipolytic actions of the water-soluble fraction of Smilax china L. leaf ethanol extract (wsSCLE) in 3T3-L1 adipocytes. MATERIALS/METHODS: The wsSCLE was identified by measuring the total polyphenol and flavonoid content. The wsSCLE was evaluated for its effects on cell viability, lipid accumulation, glycerol, and cyclic adenosine monophosphate (cAMP) contents. In addition, western blot analysis was used to evaluate the effects on protein kinase A (PKA), PKA substrates (PKAs), and hormone-sensitive lipase (HSL). For the lipid accumulation assay, 3T3-L1 adipocytes were treated with different doses of wsSCLE for 9 days starting 2 days post-confluence. In other cell experiments, mature 3T3-L1 adipocytes were treated for 24 h with wsSCLE. RESULTS: Results showed that treatment with wsSCLE at 0.05, 0.1, and 0.25 mg/mL had no effect on cell morphology and viability. Without evidence of toxicity, wsSCLE treatment decreased lipid accumulation compared with the untreated adipocyte controls as shown by the lower absorbance of Oil Red O stain. The wsSCLE significantly induced glycerol release and cAMP production in mature 3T3-L1 cells. Furthermore, protein levels of phosphorylated PKA, PKAs, and HSL significantly increased following wsSCLE treatment. CONCLUSION: These results demonstrate that the potential antiobesity activity of wsSCLE is at least in part due to the stimulation of cAMP-PKA-HSL signaling. In addition, the wsSCLE-stimulated lipolysis induced by the signaling is mediated via activation of the beta-adrenergic receptor.
3T3-L1 Cells
;
Adenosine Monophosphate
;
Adipocytes*
;
Blotting, Western
;
Cell Survival
;
China*
;
Cyclic AMP-Dependent Protein Kinases
;
Ethanol*
;
Glycerol
;
Lipolysis
;
Plants
;
Smilax*
;
Sterol Esterase
8.Korean Curcuma longa L. induces lipolysis and regulates leptin in adipocyte cells and rats.
Won Yeong SONG ; Jeong Hwa CHOI
Nutrition Research and Practice 2016;10(5):487-493
BACKGROUND/OBJECTIVES: Turmeric (Curcuma longa L.) has been reported to have many biological functions including anti-obesity. Leptin, peptide hormone produced by adipocytes and its concentration is increased in proportion to the amount of the adipocytes. In the present study, we examined the effects of Korean turmeric on the regulation of adiposity and leptin levels in 3T3-L1 adipocytes and rats fed a high-fat and high-cholesterol diet. MATERIALS/METHODS: Leptin secretion, free fatty acid and glycerol contents in 3T3-L1 adipocytes were measured after incubation of cells with turmeric for 24 hours. Rats were divided into four experimental groups: a normal diet group (N), a high-fat and high-cholesterol diet group (HF), a high-fat and high-cholesterol diet group supplemented with 2.5% turmeric extracts (TPA group) and a high-fat and high-cholesterol diet group supplemented with 5% turmeric extracts (TPB group). Serum samples were used for the measurement of leptin concentration. RESULTS: Contents of free fatty acid and glycerol showed concentration dependent increase in response to turmeric extracts. Effects of turmeric extracts on reduction of lipid accumulation in 3T3-L1 cells were examined by Oil Red O staining. Treatment with turmeric extracts resulted in increased expression levels of adipose triglyceride lipase and hormone-sensitive lipase mRNA. The concentration of leptin from 3T3-L1 adipocytes was significantly decreased by turmeric. Proportional abdominal and epididymal fats weights of the turmeric 5% supplemented group, TPB has significantly decreased compared to the HF group. The serum levels of leptin in the TPA and TPB groups were significantly lower than those of the HF group. CONCLUSIONS: Based on these results, we suggested that Korean turmeric may contribute to the decreasing of body fat and regulating leptin secretion.
3T3-L1 Cells
;
Adipocytes*
;
Adipose Tissue
;
Adiposity
;
Animals
;
Curcuma*
;
Curcumin
;
Diet
;
Fats
;
Glycerol
;
Leptin*
;
Lipase
;
Lipolysis*
;
Rats*
;
RNA, Messenger
;
Sterol Esterase
;
Weights and Measures
9.A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
Kwang Yeon KIM ; Ju Whi KIM ; Kyung Jae LEE ; Eunhyang PARK ; Gyeong Hoon KANG ; Young Hun CHOI ; Woo Sun KIM ; Jung Min KO ; Jin Soo MOON ; Jae Sung KO
Pediatric Gastroenterology, Hepatology & Nutrition 2017;20(4):263-267
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.
Biopsy
;
Child*
;
Cholesterol
;
Diagnosis, Differential
;
Dyslipidemias
;
Enzyme Replacement Therapy
;
Fibrosis
;
Glycogen Storage Disease
;
Hepatocytes
;
Hepatomegaly
;
Humans
;
Liver
;
Lysosomes
;
Macrophages
;
Male
;
Sterol Esterase*
10.A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.
Kwang Yeon KIM ; Ju Whi KIM ; Kyung Jae LEE ; Eunhyang PARK ; Gyeong Hoon KANG ; Young Hun CHOI ; Woo Sun KIM ; Jung Min KO ; Jin Soo MOON ; Jae Sung KO
Pediatric Gastroenterology, Hepatology & Nutrition 2017;20(4):263-267
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in hepatocytes, septal fibrosis and foamy macrophages. Ultrastructural examination demonstrated numerous lysosomes that contained lipid material and intracytoplasmic cholesterol clefts. A dried blood spot test revealed markedly decreased activity of LAL. LIPA gene sequencing identified the presence of a novel homozygous mutation (p.Thr177Ile). The patient's elevated liver enzymes and dyslipidemia improved with enzyme replacement therapy. This is the first report of a Korean child with LAL deficiency, and our findings suggest that this condition should be considered in the differential diagnosis of children with hepatosplenomegaly and dyslipidemia.
Biopsy
;
Child*
;
Cholesterol
;
Diagnosis, Differential
;
Dyslipidemias
;
Enzyme Replacement Therapy
;
Fibrosis
;
Glycogen Storage Disease
;
Hepatocytes
;
Hepatomegaly
;
Humans
;
Liver
;
Lysosomes
;
Macrophages
;
Male
;
Sterol Esterase*