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1.
Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. 相似文献
2.
Harsur M. Jajda 《Archives Of Phytopathology And Plant Protection》2013,46(12):1464-1478
Three varieties of Arachis hypogeae, GG 11, GG 20 and GG 24, were compared for resistance against A. niger. GG 20 showed the least disease severity. Infection with A. niger resulted in a rapid increase in NADPH oxidase, Glutathione reductase (GR) and salicylic acid in all the three varieties, indicating hyper increase of reactive oxygen species (ROS) and activation of phenyl propanoid pathway. Ferric reducing antioxidant power value was found to be decreasing due to infection in all the three varieties, confirming the role of ROS in pathogenesis. Since A. niger was found to cause pathogenesis by oxidative stress, the treatment of zinc was given as an antioxidant and its effect was studied. The application of zinc inhibited NADPH oxidase and GR activity in the control as well as in the infected GG 11 and GG 24 varieties but induced in the tolerant variety GG 20. Because zinc treatment could control the ROS in GG 11 and GG 24 varieties, disease severity was reduced but in GG 20 variety, zinc treatment aggravated ROS levels and also the disease severity. The protein profile of GG 20 in comparison to GG 11 and GG 24 varieties revealed one oligomeric protein of 110 kD as one of the responsible factors for its resistance. Total oil and its iodine value were found little higher in GG 20 variety than in other two varieties. It was found that the control of ROS could control the A. niger infection in Arachis hypogeae. 相似文献
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4.
Free radical mechanisms in enzyme reactions 总被引:1,自引:0,他引:1
Isao Yamazaki 《Free radical biology & medicine》1987,3(6):397-404
Free radicals are formed in prosthetic groups or amino acid residues of certain enzymes. These free radicals are closely related to the activation process in enzyme catalysis, but their formation does not always result in the formation of substrate free radicals as a product of the enzyme reactions. The role of free radicals in enzyme catalysis is discussed. 相似文献
5.
Yitao Luo Chengqiang Zhang Li Ma Yuxiao Zhang Zhengyuan Liu Li Chen Rui Wang Yujing Luan Yulan Rao 《Journal of lipid research》2022,63(6):100228
7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagnostic and research value, which has long been neglected in the SLOS field. In this study, we sought to investigate the feasibility of using hair for SLOS diagnosis. In the presence of antioxidants (2,6-ditert-butyl-4-methylphenol and triphenylphosphine), hair samples were completely pulverized and extracted by micro-pulverized extraction in alkaline solution or in n-hexane. After microwave-assisted derivatization with N,O-Bis(trimethylsilyl)trifluoroacetamide, the analytes were measured by GC-MS. We found that the limits of determination for 7-DHC and CHOL were 10 ng/mg and 8 ng/mg, respectively. In addition, good linearity was obtained in the range of 50–4000 ng/mg and 30–6000 ng/mg for 7-DHC and CHOL, respectively, which fully meets the requirement for SLOS diagnosis and related research. Finally, by applying the proposed method to real hair samples collected from 14 healthy infants and two suspected SLOS patients, we confirmed the feasibility of hair analysis as a diagnostic tool for SLOS. In conclusion, we present an optimized and validated analytical method for the simultaneous determination of two SLOS biomarkers using human hair. 相似文献
6.
Charles Romeo Naoko Moriwaki Kerry T. Yasunobu Irwin C. Gunsalus Hideo Koga 《Journal of Protein Chemistry》1987,6(3):253-261
The first 12 NH2-terminal amino acids of the Pseudomonas putida putidaredoxin reductase were shown to be Met-Asn-Ala-Asn-Asp-Asn-Val-Val-Ile-Val-Gly-Thr. Comparison of these data with the DNA sequence of the BamHI-HindIII 197-base fragment derived from the PstI 2.2-kb fragment obtained from the P. putida plasmid showed that the putidaredoxin reductase gene was downstream from the cytochrome P-450 gene and the intergenic region had the 24-nucleotide sequence TAAACACATGGGAGTGCGTGCTAA. The Shine-Dalgarno sequence GGAG was detected in this region. The initiating triplet for the reductase gene was GTG, which normally codes for valine, but in the initiating codon position codes for methionine. From the amino acid sequence and X-ray data comparisons with other flavoproteins, what appears to be the AMP binding region of the FAD can be recognized in the NH2-terminal portion of the reductase involving residues 5–35.This article was presented during the proceedings of the International Conference on Macromolecular Structure and Function, held at the National Defence Medical College, Tokorozawa, Japan, December 1985. 相似文献
7.
8.
Don Trinh Nguyen Jens Christian G?pfert Nobuhiro Ikezawa Gillian MacNevin Meena Kathiresan Jürgen Conrad Otmar Spring Dae-Kyun Ro 《The Journal of biological chemistry》2010,285(22):16588-16598
Sesquiterpene lactones are characteristic natural products in Asteraceae, which constitutes ∼8% of all plant species. Despite their physiological and pharmaceutical importance, the biochemistry and evolution of sesquiterpene lactones remain unexplored. Here we show that germacrene A oxidase (GAO), evolutionarily conserved in all major subfamilies of Asteraceae, catalyzes three consecutive oxidations of germacrene A to yield germacrene A acid. Furthermore, it is also capable of oxidizing non-natural substrate amorphadiene. Co-expression of lettuce GAO with germacrene synthase in engineered yeast synthesized aberrant products, costic acids and ilicic acid, in an acidic condition. However, cultivation in a neutral condition allowed the de novo synthesis of a single novel compound that was identified as germacrene A acid by gas and liquid chromatography and NMR analyses. To trace the evolutionary lineage of GAO in Asteraceae, homologous genes were further isolated from the representative species of three major subfamilies of Asteraceae (sunflower, chicory, and costus from Asteroideae, Cichorioideae, and Carduoideae, respectively) and also from the phylogenetically basal species, Barnadesia spinosa, from Barnadesioideae. The recombinant GAOs from these genes clearly showed germacrene A oxidase activities, suggesting that GAO activity is widely conserved in Asteraceae including the basal lineage. All GAOs could catalyze the three-step oxidation of non-natural substrate amorphadiene to artemisinic acid, whereas amorphadiene oxidase diverged from GAO displayed negligible activity for germacrene A oxidation. The observed amorphadiene oxidase activity in GAOs suggests that the catalytic plasticity is embedded in ancestral GAO enzymes that may contribute to the chemical and catalytic diversity in nature. 相似文献
9.
《Cell reports》2020,30(6):1835-1847.e9
10.
Glycoalkaloids were used as evidence of the affinities of nine taxa of Solanum Series Megistacrolobum and related potato cultigens from western Bolivia. S. boliviense, S. sanctae-rosae and S. toralapanum contain the commertetraose sugar moiety and appear to represent a relatively wild group within the Series. S. megistacrolobum, S. sogarandinum and S. raphanifolium show anomolous glycoalkaloid profiles that probably reflect hybridization associated with human disturbance. Primitive forms of the S. χ ajanhuiri cultigen are indistinguishable chemicaliy from conspecific weeds that were previously classified as S. megistacrolobum. Variation in total glycoalkaloid content within Series Megistacrolobum likely reflects direct selection by humans for reduced glycoalkaloid levels during the domestication process. 相似文献