Time filter

Source Type

Hu T.,Chengdu Aerospace Hospital | Zhao B.,University of Sichuan | Wei Q.-Q.,University of Sichuan | Shang H.,University of Sichuan
Journal of the Neurological Sciences | Year: 2015

In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene. To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy. © 2015 Elsevier B.V. Source

Huang L.,University of Sichuan | Tong Y.,University of Sichuan | Zhang F.,University of Sichuan | Yang Q.,Chengdu Fifth Peoples Hospital | And 7 more authors.
Peptides | Year: 2014

We assessed the plasma acyl ghrelin (AG), unacyl ghrelin (UAG), and total ghrelin (TGhr) levels in Chinese adults with pre-diabetes and newly diagnosed diabetes mellitus (NDDM) after an oral glucose tolerance test (OGTT), and abdominal subcutaneous fat area and visceral fat area (VFA) were measured. Fasting AG level was increased in the impaired fasting glucose (IFG) combined with impaired glucose tolerance (IFG + IGT) and NDDM groups. AG, UAG, and TGhr levels were significantly decreased post-OGTT, and the decrements of 30-min AG, UAG, and TGhr post-OGTT were not significantly different among groups. UAG and TGhr levels did not differ significantly among the normal glucose tolerance (NGT), IFG and NDDM groups, but they decreased obviously in the IFG + IGT and impaired glucose tolerance (IGT) groups. The NDDM group had larger VFA than the NGT, IGT, and IFG + IGT groups, even after adjustment for height, it was still larger than the NGT group. The factors such as dyslipidemia and obesity which are prone to develop insulin resistance (IR) and decrease insulin sensitivity (IS) were negatively correlated with UAG and TGhr, positively with AG/UAG, while no correlations with AG. In terms of evaluating IS and IR, AG/UAG ratio may be superior in AG concentration. Our findings suggest that relative sufficiency of AG, the deficiency of TGhr and UAG are already present in IFG + IGT patients. We speculate that there is UAG resistance in severe hyperglycemia (diabetic state), which could produce elevated TGhr and UAG compared to IFG + IGT group. In the development of T2D, increase of VFA could be the initiating factor, leading elevated AG, reduced UAG, IR, decreased IS, and finally hyperglycemia. © 2014 Elsevier Inc. Source

Yang Q.,University of Sichuan | Cao H.,Chengdu Fifth Peoples Hospital | Xie S.,Chengdu Aerospace Hospital | Tong Y.,University of Sichuan | And 10 more authors.
Gene | Year: 2013

Background: Phosphatase and tensin homolog on chromosome 10 gene (PTEN) is known as a tumor-suppressor gene. Previous studies demonstrated that PTEN dysfunction affects the function of insulin. However, investigations of PTEN single nucleotide polymorphisms (SNPs) and IR-related disease associations are limited. The aim of the present study was to investigate whether its polymorphism could be involved in the risk of metabolic syndrome (MetS). Methods: The genotype frequency of PTEN - 9C>G polymorphism was determined by using a Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS) method in 530 subjects with MetS and 202 healthy control subjects of the Han Ethnic Chinese population in a case-control analysis. Results: The PTEN -9C>G polymorphism was not associated with MetS or its hyperglycemia, hypertension and hypertriglyceridemia components. In the control individuals aged <60years or ≥60years, the CG genotype individuals had lower insulin sensitivity than CC individuals (P<0.05). In the <60-year-old MetS group and normal glucose tolerance (NGT) subgroup, the CG individuals had lower insulin sensitivity and higher waist circumference (WC) and waist-height-ratio (WHtR) than CC individuals (P<0.05). Multiple linear regression analysis showed that the PTEN polymorphism (P=0.001) contributed independently to 4.2% (adjusted R2) of insulin sensitivity variance (estimated by Matsuda ISI), while age (P=0.004), gender (P=0.000) and the PTEN polymorphism (P=0.032) contributed independently to 5.6% (adjusted R2) of WHtR variance. Conclusions: The CG genotype of PTEN - 9C>G polymorphism was not associated with MetS and some of its components as well. However, it may not only decrease insulin sensitivity in the healthy control and MetS in pre-elderly or NGT subjects, but may also increase the risk of central obesity among these MetS individuals. © 2013. Source

Tang L.,University of Sichuan | Tong Y.,University of Sichuan | Cao H.,Chengdu Fifth Peoples Hospital | Xie S.,Chengdu Aerospace Hospital | And 12 more authors.
Gene | Year: 2014

Background: Polymorphism of rs2293855 in gene MTMR9 has been associated with obesity and metabolic syndrome. We aim to study the association of rs2293855 with type 2 diabetes mellitus (T2DM) intermediate phenotypes in a Han Chinese population. Methods: The polymorphism was genotyped in 838 Han Chinese individuals using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS); all participants underwent a 75. g oral glucose tolerance test (OGTT); associations between the polymorphism and glucose tolerance, indices of insulin secretion and indices of insulin sensitivity were analyzed. Results: The frequency of genotypes and alleles differed significantly between normal glucose tolerance and prediabetes (P. = 0.043 and P. = 0.009, respectively). The GG homozygous presented higher fasting plasma glucose (P. = 0.009), higher 2-hour plasma glucose (P. = 0.024) and higher glucose area under the curve (AUC, P. = 0.01). Moreover, the G allele of rs2293855 was associated with glucose intolerance (fasting glucose, P. = 0.012; glucose AUC, P. = 0.006; 2-h glucose, P. = 0.024); it is also associated with decreased indices of insulin sensitivity (fasting insulin, P. = 0.043; insulin sensitivity index composite, P. = 0.009; homeostasis model assessment of insulin resistance, HOMA-IR, P. = 0.008) and decreased indices of insulin secretion (HOMA of beta cell function, HOMA-B, P. = 0.028; insulinogenic index, P. = 0.003). In addition, the minor allele G was also associated with increased risk of prediabetes (OR. = 1.463, 95%CI: 1.066-2.009, P. = 0.018). Conclusions: Polymorphism of rs2293855 in MTMR9 is associated with measures of glucose tolerance, indices of insulin secretion and indices of insulin sensitivity. We also suggest that allele G is likely to increase the risk of prediabetes by influencing both insulin secretion and insulin sensitivity. © 2014 Elsevier B.V. Source

Discover hidden collaborations