ABSTRACT
OBJECTIVES: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormalities of social functioning, communication and behavior. The association of the 7q21-34 region with ASD has been reported. The DLX6 gene, which is located at the 7q22 region, is one of the positional and functional candidate genes for ASD. We found that there is no association between DLX6 polymorphisms and ASD in the Korean male population. METHODS: We selected three single nucleotide polymorphisms (SNPs) that might be implicated in the change of the DLX6 gene expression. The genomic DNA was collected from the venous blood of 147 male controls and 179 male patients with ASD. The genotypes of the selected SNPs were determined using the Illumina GoldenGate assay, and the statistical analyses were performed using HapAnalyzer software and SAS Enterprise. RESULTS: We found no association of the three SNPs in the DLX6 gene with ASD in the Korean male population. CONCLUSION: Our study suggests that the three SNPs in the DLX6 gene are not associated with ASD, and we need to analyze the previously reported regions for their associations with ASD.
Subject(s)
Child , Humans , Male , Autistic Disorder , Autism Spectrum Disorder , DNA , Gene Expression , Genotype , Phenothiazines , Polymorphism, Single NucleotideABSTRACT
Signal transducer and activator of transcription 4 (STAT4), a STAT family member, mediates interleukin 12 (IL12) signal transduction. IL12 is known to be related to calorie-restricted status. In the central nervous system, IL12 also enhances the production of nitric oxide (NO), which regulates food intake. In this study, the expression of neuronal NO synthase (Nos1), which is also related to food intake, was investigated in the hypothalamic areas of Stat4 knockout (KO) mice using nicotinamide adenine dinucleotide phosphate-diaphorase (NADPH-d) histochemistry, a marker for neurons expressing Nos1 enzyme. Western blots were also performed to evaluate Nos1 and Fos expression. Wild-type Balb/c (WT group, n=10 male) and Stat4 KO mice (Stat4 KO group, n=8 male) were used. The body weight and daily food intake in the WT group were 22.4+/-0.3 and 4.4 g per day, while those in the Stat4 KO group were 18.7+/-0.4 and 1.8 g per day, respectively. Stat4 mice had lower body weight and food intake than Balb/c mice. Optical intensities of NADPH-d-positive neurons in the paraventricular nucleus (PVN) and lateral hypothalamic area (LHA) of the Stat4 KO group were significantly higher than those of the WT group. Western blotting analysis revealed that the hypothalamic Nos1 and Fos expression of the Stat4 KO group was up-regulated, compared to that in the WT group. These results suggest that Stat4 may be related to the regulation of food intake and expression of Nos1 in the hypothalamus.
Subject(s)
Animals , Humans , Mice , Blotting, Western , Body Weight , Central Nervous System , Eating , Hypothalamic Area, Lateral , Hypothalamus , Interleukin-12 , Mice, Knockout , NAD , Neurons , Nitric Oxide , Nitric Oxide Synthase , Paraventricular Hypothalamic Nucleus , Signal Transduction , STAT4 Transcription FactorABSTRACT
Sopungsungi-won has been used as a traditional medicine for diabetes and it has been proved to be a potential remedy for type 2 diabetes mellitus. We previously reported that water extract of Sopungsungi-won exhibits anti-diabetic effects both in vivo and in vitro experiments. In the present study, we have chosen to examined anti-apoptotic effect of Rheum undulatum, which is the main component of Sopungsungi-won, on pancreatic beta-cells, HIT-T15, against hydrogen peroxide (H2O2). oxidative stress. To investigate the anti-apoptotic effect of Rheum undulatum water extract (RUWE) against H2O2-induced apoptosis in pancreatic beta-cell line of hamster, HIT-T15, MTT assay, DAPI staining, TUNEL assay, RT-PCR and caspase-3 enzyme assay were performed. The morphological analysis demonstrated that cells treated with H2O2 exhibited classical apoptotic features, while such changes was reduced in cells pre-treated with RUWE. In addition, RUWE pre-treated cells prior to H2O2 treatment induced increase of levels of bcl-2 expression and decrease of caspase-3 enzyme activity compared to cells treated with H2O2 only. These results provide the possibility of usage of RU in patients with progressively deteriorated diabetes.