Subject(s)
Hypertension, Pulmonary/chemically induced , Hypertension, Pulmonary/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Pyrimidines/adverse effects , Thiazoles/adverse effects , Adult , Dasatinib , Familial Primary Pulmonary Hypertension , Humans , Hypertension, Pulmonary/prevention & control , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Protein Kinase Inhibitors/adverse effects , Protein Kinase Inhibitors/therapeutic use , Pyrimidines/therapeutic use , Thiazoles/therapeutic useABSTRACT
Located on chromosome 10q22-q23, the human neuregulin3 (NRG3) is considered to be a strong positional and functional candidate gene for schizophrenia pathogenesis. Several case-control studies examining the association of polymorphisms in NRG3 with schizophrenia and/or related traits such as delusion have been reported recently in cohorts of Han Chinese, Ashkenazi Jews, Australians and white Americans of Western European ancestry. Thus, this study aimed to comprehensively investigate the association of NRG3 genetic variations with the risk of schizophrenia and smooth pursuit eye movement (SPEM) abnormality in a Korean population. Using TaqMan assay, six single-nucleotide polymorphisms (SNPs) in the intronic region of NRG3 were genotyped and two major haplotypes were identified in 435 patients with schizophrenia as cases and 393 unrelated healthy individuals as controls. A total of 113 schizophrenia patients underwent an eye tracking task, and degree of SPEM abnormality was measured using the logarithmic values of the signal/noise (Ln S/N) ratio. Differences in frequency distributions were analyzed using logistic and regression models following various modes of genetic inheritance and controlling for age and sex as covariates. Subsequent analysis revealed that the frequency distributions of NRG3 polymorphisms and haplotypes were similar between schizophrenia patients and healthy controls of Korean ethnicity. Furthermore, no significant differences were observed between the genetic variants tested for SPEM abnormality. By elucidating a lack of association in a Korean population, findings from this study may contribute to the understanding of the genetic etiology focusing on the role of NRG3 in schizophrenia pathogenesis.
Subject(s)
Neuregulins/genetics , Ocular Motility Disorders/genetics , Pursuit, Smooth/genetics , Schizophrenia/epidemiology , Schizophrenia/genetics , Adult , Aged , Electrooculography , Female , Haplotypes , Humans , Linkage Disequilibrium , Logistic Models , Male , Middle Aged , Ocular Motility Disorders/epidemiology , Polymorphism, Single Nucleotide , Psychomotor Performance/physiology , Republic of Korea/epidemiology , Risk , Signal-To-Noise Ratio , Young AdultABSTRACT
CYP2D6*4 polymorphism is reported to be associated with Parkinson's disease (PD) and to have protective role against Alzheimer's disease (AD). Such findings are not extensively studied in the Oriental population, especially Koreans. The effects of CYP2D6*4 polymorphism on AD and PD were investigated by polymerase chain reaction-restriction fragment length polymorphism in Korean subjects. Heterozygous mutant allele was found in four of 93 patients with PD, 0 of 32 patients with AD and one of 121 control subjects (59 stroke, 59 normal controls and four other psychiatric disorders), but no homozygous mutant allele was found. There were no statistically significant differences between the AD group and controls, and between the PD group and controls. In conclusion, we suggest that CYP2D6*4 polymorphism does not confer susceptibility to PD in the Korean population. Also, due to such a rare occurrence of the CYP2D6*4 polymorphism, we can not confirm the protective role of the polymorphism against AD in the Korean population.
Subject(s)
Alzheimer Disease/genetics , Cytochrome P-450 CYP2D6/genetics , Mutation , Parkinson Disease/genetics , Polymorphism, Genetic , Aged , Alleles , Alzheimer Disease/ethnology , Asian People/genetics , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Korea , Male , Middle Aged , Parkinson Disease/ethnology , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
The expression patterns of alternatively spliced forms of the CYP2D (6, 7, 7A, 7B) gene were analyzed in the brains of individuals with Lewy body disease (LBD) and correlated with CYP2D6 polymorphisms. Five different alternatively spliced transcripts were identified. The most common was the deletion of exon 6 (87.3% of cases), followed by a 91-base pair fragment deletion at the 3' end of the gene (63.9% of cases). There was no correlation between the polymorphisms in the CYP2D6B gene or presence of LBD and these five alternatively spliced transcripts. Susceptibility to LBD may occur through mechanisms other than altered mRNA splicing of the CYP2D6 gene.
Subject(s)
Alternative Splicing , Brain/physiology , Cytochrome P-450 CYP2D6/genetics , Neurodegenerative Diseases/genetics , Aged , Alzheimer Disease/genetics , Cadaver , Exons , Gene Expression , Humans , Lewy Body Disease/genetics , Molecular Sequence Data , Polymorphism, Genetic , Transcription, GeneticABSTRACT
Alcaligenes eutrophus NCIMB 11599 was cultivated to produce poly(3-hydroxybutyric acid) (PHB) from glucose by the automatic fed-batch culture technique. The glucose concentration of the culture broth was controlled at 10 to 20 g/L by two methods: using exit gas data obtained from a mass spectrometer and using an on-line glucose analyzer. The effect of ammonium limitation on PHB synthesis at different culture phases was studied. The final cell concentration, PHB concentration, and PHB productivity increased as ammonia feeding was stopped at a higher cell concentration. High concentrations of PHB (121 g/L) and total cells (164 g/L) were obtained in 50 h when ammonia feeding was stopped at the cell concentration of 70 g/L. The maximum PHB content reached 76% of dry cell weight and the productivity was 2.42 g/L h with the yield of 0.3 g PHB/g glucose.
