Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population.

08:00 EDT 7th August 2018 | BioPortfolio

Summary of "Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population."

The deficiency of glucose‑6‑phosphate dehydrogenase (G6PD) is one of the most common inborn errors of metabolism worldwide. This congenital disorder generally results from mutations that are spread throughout the entire gene of G6PD. Three single-point mutations for G6PD have been reported in the Mexican population and named Veracruz (Arg365His), G6PD Seattle (Asp282His), and G6PD Mexico DF (Thr65Ala), whose biochemical characterization have not yet been studied. For this reason, in this work we analyzed the putative role of the three mutations to uncover the functional consequences on G6PD activity. To this end, was developed a method to clone, overexpress, and purify recombinant human G6PD. The results obtained from all variants showed a loss of catalysis by 80 to 97% and had a decrease in affinity for both physiological substrates with respect to the wild type (WT) G6PD. Our results also showed that the three mutations affected three-dimensional structure and protein stability, suggesting an unstable structure with low conformational stability that affected its G6PD functionality. Finally, based on the biochemical characterization of the unclassified G6PD Mexico DF, we suggest that this variant could be grouped as a Class I variant, because biochemical data are similar with other Class I G6PDs.


Journal Details

This article was published in the following journal.

Name: International journal of biological macromolecules
ISSN: 1879-0003


DeepDyve research library

PubMed Articles [11839 Associated PubMed Articles listed on BioPortfolio]

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Sichuan, China.

Our goals were to screen newborns and characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southwestern China. Meanwhile, we would like to analyze the factors that mig...

Biochemical effects of some CeO, SiO, and TiO nanomaterials in HepG2 cells.

The potential mammalian hepatotoxicity of nanomaterials was explored in dose-response and structure-activity studies in human hepatic HepG2 cells exposed to between 10 and 1000 μg/ml of five differe...

Genetic mutation screening of glucose-6-phosphate dehydrogenase deficiency in Dongguan district.

To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridi...

Field evaluation of quantitative point of care diagnostics to measure glucose-6-phosphate dehydrogenase activity.

Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide, no reliable bedside diagnostic tests to quantify G6PD activity exist. This study evaluated two novel quant...

Decreased glucose-6-phosphate dehydrogenase activity along with oxidative stress affects visual contrast sensitivity in alcoholics.

To evaluate oxidative stress and glucose-6-phosphate dehydrogenase (G6PD) status of alcoholics and discern their association, if any, with visual contrast sensitivity function.

Clinical Trials [4653 Associated Clinical Trials listed on BioPortfolio]

Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent and add a burden on families in Egypt and Middle East due to lifelong diet restriction, non-fava beans diet is main food fo...

A Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency

This study will evaluate a new and safe testing method for identifying medicines that can cause problems in glucose-6-phosphate dehydrogenase (G6PD) deficient individuals. We are looking ...

Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Succinic Semialdehyde Dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disease that interferes with the catabolism of the major inhibitory neurotransmitter gamma-amino butyr...

Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency

Neonatal Glucose-6-phosphate Dehydrogenase(G6PD) Deficiency is one of the significant reason for neonatal hyperbilirubinemia and even irreversible bilirubin encephalopathy.The neonates may...

Phase2a Primaquine Dose Escalation Study

The purpose of this study is to evaluate the safety, efficacy, and pharmacokinetics of low single-dose primaquine for gametocidal activity against P.falciparum among adult glucose-6-phosph...

Medical and Biotech [MESH] Definitions

A glucose dehydrogenase that catalyzes the oxidation of beta-D-glucose to form D-glucono-1,5-lactone, using NAD as well as NADP as a coenzyme.

An NAD-dependent glyceraldehyde-3-phosphate dehydrogenase found in the cytosol of eucaryotes. It catalyses the dehydrogenation and phosphorylation of GLYCERALDEHYDE 3-PHOSPHATE to 3-phospho-D-glyceroyl phosphate, which is an important step in the GLYCOLYSIS pathway.

An ester of glucose with phosphoric acid, made in the course of glucose metabolism by mammalian and other cells. It is a normal constituent of resting muscle and probably is in constant equilibrium with fructose-6-phosphate. (Stedman, 26th ed)

An enzyme of the oxidoreductase class that catalyzes the reaction 6-phospho-D-gluconate and NADP+ to yield D-ribulose 5-phosphate, carbon dioxide, and NADPH. The reaction is a step in the pentose phosphate pathway of glucose metabolism. (From Dorland, 27th ed) EC

An ATP-dependent enzyme that catalyzes the addition of ADP to alpha-D-glucose 1-phosphate to form ADP-glucose and diphosphate. The reaction is the rate-limiting reaction in prokaryotic GLYCOGEN and plant STARCH biosynthesis.

Quick Search


DeepDyve research library

Relevant Topics

Cloning in biology is the process of producing similar populations of genetically identical individuals that occurs in nature when organisms such as bacteria, insects or plants reproduce asexually. Cloning in biotechnology refers to processes used to cre...

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Searches Linking to this Article