Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant

Apolipoprotein E (apoE) is a polymorphic protein which occurs in three common isoforms and more than 25 rare variants. Some of the rare apoE variants have been implicated in a dominant mode of inheritance of familial dysbetalipoproteinemia (FD). We have identified three unrelated apoE 2*(Arg136-->Cys) carriers with FD. This finding supports the notion that although apoE 2*(Arg136-->Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers.     

Down-regulation of model yeast proteins by ubiquitin-dependent proteolysis

Ubiquitination is a versatile tool used by all eukaryotic organisms for controlling the stability, function, and intracellular localization of a multitude of proteins. I will attempt to bring together our recent data on the down-regulation of two yeast model proteins, the galactose transporter Gal2 and fructose-1,6-bisphosphatase, by ubiquitin-dependent proteolysis triggered by the addition of easily fermentable carbon sources.     

不同季节和冬眠时相中达乌尔黄鼠视前区温敏神经元特性和下丘脑内NA代谢的变化

比较了不同季节和冬眠时相中达乌尔黄鼠 (Citelleusdauricus)下丘脑内去甲肾上腺素 (noradrenaline ,NA)代谢和视前区 (POA)脑片中各类温敏神经元的比例、温度敏感性、放电活动的临界温度及下限温度 .结果表明 :与夏季动物相比 ,( 1)冬眠各时相中POA温敏神经元的比例和温敏性产生了与冬眠体温调节特性相关的适应性改变 ;( 2 )冬季和冬眠中POA神经元放电的下限温度和温敏神经元活动的临界温度均显著下移 ;( 3 )冬眠中POA神经元对NA反应的敏感性增高 ,冷敏神经元对NA的反应从夏季的抑制型转变为冬眠时的兴奋型 ;( 4)入眠和深冬眠时下丘脑内NA的含量和代谢水平下降 ,出眠时代谢水平升高 .这些变化可能解释动物入眠时主动降低体温和出眠时从深低体温中快速地升温的温度调节机理 .     

Presence of fetal cells in maternal circulation after delivery

Fetal cells can still be detected in maternal blood 8 month postpartum.     

Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes

We describe here a new stop mutation at triosephosphate isomerase (TPI) position 145 in a Hungarian family for which the first mutation (240 Phe-->Leu) was published earlier. The entire genomic TPI locus (exons, introns and promoter) was sequenced and found to be identical in the two compound-heterozygote brothers. Both brothers have the same well-compensated level of non-spherocytic hemolytic anemia and very high levels of the TPI substrate dihydroxyacetonephosphate (DHAP), but only one brother manifests neurologic disorders. Differences in nonsense-mediated mRNA decay may be at the basis of the differences in phenotype expression although it cannot be excluded the interaction with a modifier gene. Based on our earlier results, the development of neurodegeneration may be decisively modulated by the cellular environment of the mutant proteins initiating the process of focal apoptosis of neurons in glycolytic, peroxisomal and prion-induced neurological diseases.     

Variability for resistance to Fusarium solani culture filtrate and fusaric acid among somaclones in pea

Pea (Pisum sativum L.) somaclones of cultivars Adept, Komet and Bohatýr were obtained after selection in vitro with Fusarium solani filtrate and fusaric acid (FA). R2 regenerants were analysed by random amplification of polymorphic DNA (RAPD; OPAB4, P-14, UBC-556) and inter-retrotransposon amplification polymorphism (IRAP; Ogre) markers. Marker UBC-556 showed different banding patterns for each cultivar, but without specific bands for selected and control plants. Markers OPAB4, P14 and Ogre were useful for clear discrimination between selected and non-selected variants of all three cultivars. Flow cytometry analysis proved the same genome size of selected and non-selected pea lines. Therefore in vitro selection by pathogen derived agents could be the efficient method for obtaining of pea somaclones with increased resistance to F. solani.     

The crocin assay for the determination of relative rate constants of alkoxyl radical reactions with the pyridoindole stobadine and with other antioxidants

Summary

The water-soluble carotenoid crocin is bleached in aqueous solutions by tert-butyloxy radicals (t-BuO^.) photolytically generated from tert-butyl hydroperoxide. Crocin bleaching as measured at 440 nm can be competitively inhibited by antioxidants. This method therefore allows the determination of the relative reaction rates of these compounds with the t-BuO^. radicals. In this test system the scavenging effect of the pyridoindole stobadine, a new antioxidant with potential for the treatment of tissue injury caused by oxidative stress, was compared with other known antioxidants. Generally good agreement was observed in two different approaches for the evaluation of the experimental data. The relative rate constants of the antioxidants tested increased in the order: stobadine, chlorpromazine, isoascorbic acid, trolox, ascorbic acid. Since it has been shown previously that stobadine can scavenge alkoxyl radicals also in a non-polar environment, this antioxidant property may be important in the inhibition of lipid peroxidation.     

过量表达辣椒CaNPR1提高烟草对青枯菌的抗性

对水稻和拟南芥等模式植物的研究表明,NPR1(nonexpressor of pathogenesis-related genes 1)是依赖于SA通路的防御反应调节基因,但在辣椒和烟草等茄科作物中该蛋白的功能还鲜有报道.研究从辣椒cDNA文库中分离获得一个NPR1的类似物全长cDNA(CaNPR1),并获得了其超表达的转基因烟草T1代株系.研究结果表明,这些株系与其野生型植株没有明显表型差异,但却表现出较野生型植株更高的抗青枯菌侵染活性.同时,研究还发现CaNPR1的超表达还显著提高了防御相关基因的表达,表明NPR1在不同植物间具有较强的功能保守性.