Validating the assessment of glucose 6 phosphate dehydrogenase g6pd
In preliminary testing in Malian children, there was strong concordance between our method and established genetic and biochemical techniques.
The assay is robust and economical, and could serve as a screening method as well as a research tool, especially for high-throughput applications such as flow cytometry.
Treatment of SCID mice engrafted with G6PD-deficient hu RBCs with primaquine, an 8-AQ, resulted in a dose-dependent selective loss of hu RBCs.
To validate the specificity of this model, we tested known nonhemolytic antimalarial drugs: mefloquine, chloroquine, doxycycline, and pyrimethamine.
Testing should be considered before prescribing medication associated with hemolysis in individuals with G6PD deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy with about 400 million people affected worldwide.
These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. R246L exhibited larger structural differences among the four unique mutations. True Positive (TP), True Negative (TN), False Positive (FP), and False Negative (FN) were calculated for each mutation by comparing the tool results and the prevalence, which was also used to calculate the above mentioned parameters for the 5 in silico tools.
G6PDD is one of the most prevalent genetic diseases in the Arab countries; it is reported to have a high prevalence in Saudi Arabia (39.8%), Syria (30%), and Oman (29%) compared to other Arab uk/) has reported 202 mutations, with 68 pathogenic mutations that belong to Class I (WHO). S188F) is the most prevalent among Arabs, with 90% frequency in Bahraini patients. Initially, the protein structure was solvated in a cubic box with 10 Å radii.
Treatment with drugs known to cause hemolytic anemia in humans do not cause damage to the mouse RBCs nor to the transfused normal human RBCs; but a robust hemolytic response is observed in the mice transfused with G6PD-deficient human RBCs.
The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. The prevalence of G6PDD has been increasing through independent mutational events in different geographical areas where prevalence rate of malaria is currently or was previously endemic. Solvent-Accessible Surface Area analyses (SASA) (a) SASA of Common mutants and native mutants. A cross-species multiple sequence alignment (MSA) was performed for the G6PD sequence from mice, rat, hamster, Bosindicus (Bosin), and human.
These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. The clinical manifestations of G6PDD vary from asymptomatic individuals to patients with acute haemolytic anaemia, chronic non-spherocytic haemolytic anaemia, drug-induced haemolytic anaemia, favism, and neonatal jaundice. The Con Surf conservation tool was used to precisely assign conservation scores for each amino acid across species.
Glucose-6-phosphate dehydrogenase (G6PD) is a housekeeping enzyme that catalyses the rate-limiting first step in the pentose phosphate pathway, where it produces nicotinamide adenine dinucleotide phosphate (NADPH), a critical cofactor in a variety of metabolic processes.
In the red blood cell (RBC), G6PD activity is especially important as the principal source of reducing power to regenerate the antioxidant glutathione.