Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17a-hydroxylase/17,20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese.</p><p><b>METHODS</b>Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province.</p><p><b>RESULTS</b>Seven patients (5 of them were 46,XX; 2 were 46,XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cortisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls.</p><p><b>CONCLUSION</b>The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD.There might be certain frequency of heterozygotes for D487_F489del in Chinese population.</p>

[Characteristics of the populations defined by different criteria of the metabolism syndrome].

OBJECTIVE: To compare the characteristics of over weight and obesity subjects defined by three criteria: World Health Organization (WHO) in 1999, the National Cholesterol Education Program Adult Treatment Panel Nll (NCEP-ATP II ) in 2001, and the International Diabetes Federation (IDF) in 2005. METHODS: Medical history collection, physical examination, oral glucose tolerance test ( OGTT) , and frequently sampled intravenous glucose tolerance test (FSIGTT) were performed in 371 subjects with body mass index (BMI)> or =23 kg/m(2). Fasting blood samples were taken to test lipid profiles, urea acid level and so on. Data was analyzed including comparison and relationship statistics. RESULTS: Data from FSIGTT showed that insulin resistance existed in all over weight and obesity subjects. The relationship between waist and sensitivity index (SI) was superior than that between BMI and SI ( r = - 0. 198 and r = - 0. 194, P < 0. 001). Totally 107 subjects (28. 8%) did not meet any definitions, 187 (50. 4%) met ATP definition, 98 (26. 4%) met WHO definition, and 234 (63. 1% ) met IDF definition. ATP and IDF definitions had the highest coincidence rate (70. 3% ) , and subjects in these two groups almost had basically the same manifestations. The age of onset in WHO group was higher than those in other two groups. Meanwhile, subjects in the WHO group was characterized by lower BMI, higher hyperlipidemia, and significantly increased fasting and postprandial blood glucose level. The MS component scores were positively correlated with age, BMI, waist, and waist-to-hip ratio (WHR) , and were negatively correlated with SI. However, no correlation was found between MS component scores and gender, fat% , or acute insulin response to glucose index. CONCLUSIONS: Some of over weight and obesity subjects only have insulin resistance and have no metabolism syndrome. The group defined by IDF criteria of the metabolic syndrome (MS) has the highest incidence rate. Limited by the requirements of insulin resistance evaluation, the definition proposed by WHO is somewhat unfeasible for practices. ATP definition may be replaced by IDF definition, because the populations defined by ATP definition is covered by the latter. Meanwhile, the abnormalities of fat mass distribution in the body ( i. e. , central obesity) , rather than its contents, may exacerbate the occurrence of MS, as well as the development of insulin resistance.

Adipokine and metabolic syndrome / 中国医学科学院学报

Adipose tissue is not simply a depot of energy, but is an active endocrine organ. The adipokines play an important role in the pathogenesis of metabolic syndrome. The proinflammatory adipokines secreted from expanded visceral adipose tissue directly induce insulin resistance and vascular injuries. A better understanding of the endocrine function of adipose tissue may lead to more rational therapy for metabolic syndrome.

Ginsenoside Rb_1 facilitates adipocyte differentiation and inhibits lipolysis in 3T3-L1 adipocytes / 中华内分泌代谢杂志

Objective To observe the effect of ginsenoside Rb1,the most abundant ginsenoside in ginseng root,on differentiation and lipolysis of 3T3-L1 cells and to explore its anti-diabetic mechanism.Methods 3T3-L1 preadipoeytes were induced under standard differentiation process in the presence of 0.1,1,10,100?mol/L ginsenoside Rb_1 for 6 days.Oil red O staining,measurement of triglyceride contents and glucose uptake assay were performed.The expressions of mRNA and protein of PPAR?2,C/EBP?,ap2,glucose transporter (Glut) 1,and Glut4 were analysed with quantitative real time-PCR and Western blot.The binding affinity of Rb_1 to PPAR?-LBD was evaluated by Surface Plasmon Resonance (SPR).Lipolysis of adipocytes was examined by the measurement of glycerol released from adipoeytes treated with Rb_1 for 1 h.Results Ginsenoside Rb_1 facilitated differentiation of 3T3-L1 preadipoeytes in a dose-depondent manner.10?mol/L ginsenoside Rb_1 increased lipid accumulation by about 56%.Treatment of differentiating adipocytes with 10?mol/L ginsenoside Rb_1 increased the expressions of PPAR?2 and C/EBP?mRNA and protein,as well as mRNA expression of ap2,one of their target genes.After treatment of differentiating adipoeytes with Rb_1,basal and insulin-mediated glucose transport augmented significantly accompanied by up-regulations of mRNA and protein level of Glut4,but not of Glutl.SPR showed Rb_1 could bind to PPAR?which suggested Rb_1 was a ligand of PPAR?.Ginsenoside Rb_1 inhibited basal lipolysis in adipoeytos in a dose-dependent manner.However,it did not affect isoproterenol-stimulated lipolysis.Conclusion As a PPAR?ligand,ginsenoside Rb_1 promotes adipogenesis,inhibitas basal lipolysis and inereasos basal and insulin-mediated glucose transport in cultured adipoeytes.Therefore,anti-diabetic and insulin-sensitizing activity of ginsenosides is,at least in part,involved in the enhancing effect on PPAR?2 and C/EBP?expressions,hence promoting adipogenesis and glucose uptake,and inhibiting lipolysis in adipocytes.