RESUMEN
The function of rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE) in some autoimmune diseases, including rheumatoid arthritis (RA), is ambiguous. We determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population.DNA was prepared from the venous leukocytes of 444 RA patients and 647 normal controls. The coding regions and adjacent intron sequences of SIAE were amplified by polymerase chain reaction. The products were then subjected to sequencing analysis. The detected variations were further evaluated in the normal controls and available family members by sequencing. Seven variants of RA were identified in this study, including four known single nucleotide polymorphisms SNPs (rs7941327, rs7941523, rs1942663, and rs12282107) and three novel SNPs. The genomic positions of the three novel SNPs are chr11:124013712, chr11:124023268, and chr11:124044505. No significant differences in the seven SNPs of SIAE were observed between patients with RA and controls in this cohort (P > 0.05). Three novel variations and four known SNPs in SIAE were detected in the Chinese RA patients and normal controls. Our results imply that SIAE does not play a major role in RA in this population.
Asunto(s)
Acetilesterasa/genética , Artritis Reumatoide/genética , Mutación , Acetilesterasa/sangre , Anciano , Alelos , Artritis Reumatoide/enzimología , Pueblo Asiatico/genética , Estudios de Casos y Controles , China , Etnicidad/genética , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido SimpleAsunto(s)
Enzimas/sangre , Hexaclorociclohexano/toxicidad , Hígado/efectos de los fármacos , Hígado/enzimología , Macrófagos/efectos de los fármacos , Macrófagos/enzimología , Acetilesterasa/análisis , Acetilesterasa/sangre , Animales , Fructosa-Bifosfato Aldolasa/análisis , Fructosa-Bifosfato Aldolasa/sangre , Glucuronidasa/análisis , Glucuronidasa/sangre , Masculino , Malondialdehído/análisis , Malondialdehído/sangre , Ratas , Transaminasas/análisis , Transaminasas/sangreRESUMEN
Enzymatic activity was studied in blood plasma, erythrocytes and liver tissue homogenate of rats treated with vegetable aromatic substances. 60 rats were kept within 3 months in atmosphere containing naturally occurring concentrations of monarde ester oil. Control animals were maintained in usual atmosphere of vivarium. In liver tissues of control animals glycolytic processes predominated as shown by the data on increased activities of lactate- and glucose-6-phosphate dehydrogenases. At the same time, activity of soluble microsomal enzyme acetyl esterase was decreased in liver tissue, while activity of these esterases was increased in blood plasma, thus suggesting that membrane structures were destabilized. Aromatic fractions of monarde ester oil, introduced into atmosphere, contributed to normalization of the enzymatic reactions studied.
Asunto(s)
Eritrocitos/enzimología , Hígado/enzimología , Aceites Volátiles/farmacología , Aceites de Plantas/farmacología , Acetilesterasa/sangre , Acetilesterasa/metabolismo , Animales , Exposición a Riesgos Ambientales , Glucosafosfato Deshidrogenasa/sangre , Glucosafosfato Deshidrogenasa/metabolismo , L-Lactato Deshidrogenasa/sangre , L-Lactato Deshidrogenasa/metabolismo , Malato Deshidrogenasa/sangre , Malato Deshidrogenasa/metabolismo , Masculino , Ratas , Ratas EndogámicasAsunto(s)
Acetilesterasa/sangre , Dipeptidil-Peptidasas y Tripeptidil-Peptidasas/sangre , Endopeptidasas/sangre , Esterasas/sangre , Linfocitos T/enzimología , Animales , Autorradiografía , Humanos , Micosis Fungoide/enzimología , Trastornos por Fotosensibilidad/enzimología , Formación de Roseta , Neoplasias Cutáneas/enzimología , Linfocitos T/inmunologíaRESUMEN
Net enzyme activities of normal human blood cells were measured, and isoelectric focusing patterns of acid esterase (AcE) (EC 3.1.1.6) and acid phosphatase (AcP) (EC 3.1.3.2) were compared with corresponding data obtained for two acute T-lymphoblastic leukemia cell lines (JM, Molt-4), one acute B-lymphoblastic leukemia cell line (Ball-1), one acute non-B-non-T-lymphoblastic leukemia cell line (KM 3), and one promyelocytic leukemia cell line (HL-60). The AcE isozymes, found in the individual blood cell types, were regularly expressed by the corresponding cell lines. AcP was regularly expressed by lines HL-60 and KM 3, but lines JM, Molt-4, and Ball-1 showed additional isozymes and/or reduction of the intensity of the typical isozymes found in the presumed normal counterparts. This phenomenon resulted partly in an obscuration of the typical isozyme patterns. Our study documents the applicability of isozyme mapping to the characterization of permanent hematopoietic cell lines. The results suggest that long-term culture conditions can repress phenotypic properties and/or derepress gene activities.
Asunto(s)
Acetilesterasa/sangre , Fosfatasa Ácida/sangre , Células Madre Hematopoyéticas/enzimología , Isoenzimas/sangre , Línea Celular , Humanos , Focalización Isoeléctrica , Leucemia Linfoide/enzimología , Leucemia Mieloide/enzimologíaAsunto(s)
Encéfalo/efectos de los fármacos , Carcinógenos/farmacología , Etanol/toxicidad , Formaldehído/toxicidad , Hígado/efectos de los fármacos , Acetilesterasa/sangre , Compuestos de Anilina/toxicidad , Animales , Dimetilnitrosamina/toxicidad , Femenino , Glucuronidasa/sangre , L-Lactato Deshidrogenasa/sangre , Masculino , Ratas , Ratas Endogámicas , Ácidos Siálicos/sangreRESUMEN
In a first night's collection of rat thoracic duct lymphocytes B- and T-cells were distinguished on cytocentrifuge smears by complementary markers: B-cells by rosette-formation with Staphylococcus aureus Strain Cowan 1 armed with rabbit antiserum to rat F(ab')2 and T-cells by high uptake of 3H-uridine demonstrated by autoradiography. On incubation of the cytocentrifuge smears for demonstration of alpha-naphthyl-acetate esterase (ANAE)-activity, most B-cells showed large, intense colour deposits often located in the uropod. T-cell ANAE-activity on the other hand was variable, possibly due to variations in experimental conditions. When present, the T-cell colour deposits were small, dot-like and of low intensity. ANAE-activity may then be used to differentiate between rat T- and B-cells, being a marker for the latter cell type. This is unexpected as others have reported that ANAE-activity is specific for T-cells in mouse and man. Studies with inhibitors indicate that the rat B-cell enzyme belongs to the acetylesterases.