No abstract available.
Adult ; Carnitine ; Hepatitis ; Humans ; Transferases

OBJECTIVE: To explore the association of the N-acetyl transferase 2 (NAT 2) gene polymorphisms with endometriosis. METHODS: One hundred seventy-two women with surgically or histologically diagnosed endometriosis of stages I-IV, and 205 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Genotype distribution of NAT 2 polymorphisms and frequencies of slow and fast acetylators in affected women and controls were evaluated. RESULTS: There was no statistically significant difference in the genotype distribution of NAT 2 polymorphisms and frequencies of slow and fast acetylators between the patients with endometriosis and the controls. CONCLUSION: These results suggest that N-acetyl transferase 2 gene polymorphisms is not associated with the risk for endometriosis in the Korean population.
Endometriosis* ; Female ; Genotype ; Humans ; Laparoscopy ; Laparotomy ; Transferases*

We present here a case of gouty synovitis of the knee in a patient with partial hypoxanthine-guanine phosphoribosyl transferase deficiency (Kelley-Seegmiller syndrome), which is an inherited purine metabolic disorder. Magnetic resonance images and computed tomography showed a diffuse mass with stippled calcification around the posterior cruciate ligament (PCL) in the posterior intercondylar notch. Arthroscopic examination revealed that the articular surfaces and menisci in the affected knee were almost completely covered with white chalky monosodium urate (MSU) crystals. The diffuse mass around the PCL was composed of proliferative synovial villi covered with MSU crystals that looked like "snow covered trees". Arthroscopic total synovectomy was performed. The posterior trans-septal portal was especially useful for removal of the proliferative villi around the PCL. To our knowledge, this is the first report of arthroscopic examination in a patient with Kelley-Seegmiller syndrome.
Knee ; Posters [Publication Type] ; Transferases ; Synovitis ; Syndrome

No abstract available.
Chromosome Aberrations* ; Ethylene Oxide* ; Lymphocytes* ; Transferases*

Cinnamomum camphora is an important economic tree species in China. According to the type and content of main components in the volatile oil of leaf, C. camphora were divided into five chemotypes, including borneol-type, camphor-type, linalool-type, cineole-type, and nerolidol-type. Terpene synthase(TPS) is the key enzyme for the formation of these compounds. Although several key enzyme genes have been identified, the biosynthetic pathway of(+)-borneol, which has the most economic value, has not been reported. In this study, nine terpenoid synthase genes CcTPS1-CcTPS9 were cloned through transcriptome analysis of four chemical-type leaves. After the recombinant protein was induced by Escherichia coli, geranyl pyrophosphate(GPP) and farnesyl pyrophosphate(FPP) were used as substrates for enzymatic reaction, respectively. Both CcTPS1 and CcTPS9 could catalyze GPP to produce bornyl pyrophosphate, which could be hydrolyzed by phosphohydrolase to obtain(+)-borneol, and the product of(+)-borneol accounted for 0.4% and 89.3%, respectively. Both CcTPS3 and CcTPS6 could catalyze GPP to generate a single product linalool, and CcTPS6 could also react with FPP to generate nerolidol. CcTPS8 reacted with GPP to produce 1,8-cineol(30.71%). Nine terpene synthases produced 9 monoterpene and 6 sesquiterpenes. The study has identified the key enzyme genes responsible for borneol biosynthesis in C. camphora for the first time, laying a foundation for further elucidating the molecular mechanism of chemical type formation and cultivating new varieties of borneol with high yield by using bioengineering technology.
Cinnamomum camphora/enzymology* ; Alkyl and Aryl Transferases/chemistry*

Genome mining for the search and discovery of two new globin-like enzymes, TriB fromFusarium poae and TutaA from Schizophyllum commne, are involved in the synthesis of two linear terpenes tricinonoic acid (1) and 2-butenedioic acid (3). Both in vivo heterologous biosynthesis and in vitro biochemical assays showed that these two enzymes catalyzed the C-C double bond cleavage of a cyclic sesquiterpene precursor (-)-germacrene D (7) and a linear diterpene backbone schizostain (2), respectively. Our work presents an unusual formation mechanism of linear terpenes from fungi and expands the functional skills of globin-like enzymes in the synthesis of terpene compounds.
Terpenes/chemistry* ; Alkyl and Aryl Transferases ; Globins ; Diterpenes

The present study aimed to investigate the composition of the terpene synthase(TPS) gene family in Gynostemma pentaphyllum and its role in abiotic stresses. The G. pentaphyllum TPS gene family was identified and analyzed at the genome-wide level using bioinformatics analysis, and the expression patterns of these family members were analyzed in different tissues of G. pentaphyllum as well as under various abiotic stresses. The results showed that there were 24 TPS gene family members in G. pentaphyllum with protein lengths ranging from 294 to 842 aa. All of them were localized in the cytoplasm or chloroplasts and unevenly distributed on the 11 chromosomes of G. pentaphyllum. The results of the phylogenetic tree showed that the G. pentaphyllum TPS gene family members could be divided into five subfamilies. As revealed by the analysis of promoter cis-acting elements, TPS gene family members in G. pentaphyllum were predicted to respond to a variety of abiotic stresses such as salt, low temperature, and dark stress. The analysis of gene expression patterns in different tissues of G. pentaphyllum revealed that nine TPS genes were tissue-specific in expression. The qPCR results showed that GpTPS16, GpTPS17, and GpTPS21 responded to a variety of abiotic stresses. This study is expected to provide references in guiding the further exploration of the biological functions of G. pentaphyllum TPS genes under abiotic stresses.
Gynostemma ; Phylogeny ; Alkyl and Aryl Transferases ; Chloroplasts

OBJECTIVE: Disturbances in the biogenic amine pathways have been hypothesized to be the biochemical basis of schizophrenia. Catechol-O-methyl transferase (COMT) gene is an important candidate gene due to its function to metabolically inactivating these amines. We investigated the association between 472 G/A (158val/met) and -287 A/G polymorphisms of COMT gene with response to clozapine treatment in refractory schizophrenia. METHODS: One hundred twenty patients of refractory schizophrenia, who were treated with clozapine longer than six months, were participated in this study. We evaluated treatment response on the basis of the difference of re-hospitalization frequency and hospitalization duration before and after the first clozapine administration day. Genotyping of the 472 G/A and -287 A/G polymorphisms was performed by SNapShot method. RESULTS: In 472 G/A polymor-phism, there were no significant differences of the re-hospitalization frequency and the hospitalization duration between the A (-) group and A (+) group, and also no differences among GG, GA, and AA groups. In -287 A/G polymorphism, there were no significant differences between G (-) group and G (+) group. However, we observed significant differences in the re-hospitalization frequency (F=4.38, p=0.015) and in the hospitalization duration (F=3.90, p=0.024) among three genotype groups. CONCLUSION: We found that the treatment response to clozapine was not associated with COMT 472 G/A polymorphism but was positively associated with -287 A/G polymorphism in refractory schizophrenia. However, This association is not strong enough to conclude the association between -287 A/G polymorphism in COMT gene and clozapine response. Further studies with a large sample are required to verify this positive finding more clearly.
Amines ; Biogenic Amines ; Clozapine* ; Genotype ; Hospitalization ; Humans ; Schizophrenia* ; Transferases*

BACKGROUND AND PURPOSE: A carboxy-O-methyl transferase inhibitor entacapone has been introduced as an adjuvant drug for Parkinson disease (PD) patients. Although clinical trials reported beneficial role of entacapone, a long-term trial over 3 years failed to show significant effect. The goals of this study were to evaluate the clinical benefit and the efficacy of entacapone in an open clinical practice. METHODS: After the completion of a double-blind placebo-controlled entacapone study, 149 patients from 4 centers were included. Antiparkinsonian medications were optimized by the judgment of the neurologists in charge. The clinical global impression (CGI) scale was obtained at 6 months and 1 year after the initiation of entacapone treatment. RESULTS: Of the 149 patients, 117 patients chose to try entacapone in an open-label fashion. Sixty-nine (59%) patients completed the 1-year trial. Twenty-nine patients discontinued entacpaone before 6 months, and 19 between 6 months and 1 year during trial. Twelve patients out of 48 patients discontinued entacapone because of its poor efficacy. The CGI scale was 3.9 (+/-1.5) at the beginning of the trial, 4.3 (+/-1.1) at 6 month, and 3.8 (+/-1.3) at 1 year, respectively. The CGI scale of those who discontinued between 6 month and 1 year was 3.4 (+/-1.7), which was worse, but insignificantly, than that of the continuer. CONCLUSIONS: The dropout at 1 year of our study was very high at 41%. Even though entacapone is indicated for advanced PD patients with motor fluctuation, the fluctuators commonly have dyskinesia and mental symptoms, which can become more troublesome with entacapone. In the patients with advanced PD, the clinical efficacy and side effects should be carefully considered in a long-term use of entacapone.
Dyskinesias ; Humans ; Judgment ; Parkinson Disease* ; Patient Dropouts ; Transferases

We report a case of BX in a 27-year-old woman admitted for Cessarian section after diagnosis of placenta previa. An ABO discrepancy was observed, such as, group O in cell typing but group B in serum typing. The patient's red cells were agglutinated by anti-H and show the mixed field agglutination by anti-A,B. The results of adsorption and elution test, saliva test and B transferase test show the presence of B antigen, absence of B substance in saliva and no activity of B-transferase. All of these findings were compatible with BX.
Adsorption ; Adult ; Agglutination ; Diagnosis ; Female ; Humans ; Placenta Previa ; Saliva ; Transferases