Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency

Alcántara-Ortigoza, Miguel Ángel; Hernández-Ochoa, Beatriz; Ángel, Ariadna González-del; Ibarra-González, Isabel; Belmont-Martínez, Leticia; Gómez-Manzo, Saúl; Vela-Amieva, Marcela

doi:10.1016/j.clinbiochem.2022.08.012

Cited by 4 publications

(20 citation statements)

References 50 publications

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“…The crude extract was measured at 340 nm and 25 • C to calculate specific activity based on the concentration of protein, using the reaction standard mixture (100 mM Tris-HCl buffer at pH 8.0, 3 mM MgCl 2 , 1 mM of G6P, and 1 mM NADP + ). The figure was created using the data found in references [10,14,39,[62][63][64][65]. The recombinant G6PD variants with purity greater than 95% were obtained for each mutant [10,14,39,[62][63][64][65].…”

Section: Mutations Of G6pd Variants Affect Its Activity In Different ...mentioning

confidence: 99%

“…The figure was created using the data found in references [10,14,39,[62][63][64][65]. The recombinant G6PD variants with purity greater than 95% were obtained for each mutant [10,14,39,[62][63][64][65]. Approximately 2 mg of almost pure protein for all the variants was obtained, except for the Class II G6PD San Luis Potosi, Vanua Lava, Toluca, Tainan, Seattle, and unclassified Mexico DF variants [14,39,63,65], where the total protein ranged from 0.4 to 0.6 mg of pure protein, suggesting that a decrease in the stability of the protein in each one of the mutants, compared to the WT-G6PD protein, was provoked by the single mutations on the 3D structure (Figure 4).…”

Section: Mutations Of G6pd Variants Affect Its Activity In Different ...mentioning

confidence: 99%

“…Residual activity was expressed as a percentage of the activity for the same sample incubated at 37 °C. The figure was created using the data found in references [10,14,39,[62][63][64][65]. Residual activity was expressed as a percentage of the activity for the same sample incubated at 37 • C. The figure was created using the data found in references [10,14,39,[62][63][64][65].…”

Section: Thermal Inactivation Assaysmentioning

confidence: 99%

“…2023, 24, x FOR PEER REVIEW 7 of 20 specific activity based on the concentration of protein, using the reaction standard mixture (100 mM Tris-HCl buffer at pH 8.0, 3 mM MgCl2, 1 mM of G6P, and 1 mM NADP + ). The figure was created using the data found in references[10,14,39,[62][63][64][65].…”

mentioning

confidence: 99%

“…The activity was measured with the reaction standard mixture (100 mM Tris-HCl buffer at pH 8.0, 3 mM MgCl 2 , 1 mM of G6P, and 1 mM NADP + ). Residual activity was expressed as a percentage of the activity for the same sample incubated at 37 • C. The figure was created using the data found in references[10,14,39,[62][63][64][65].…”

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confidence: 99%

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An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population

Hernández-Ochoa,

Ortega-Cuellar,

González-Valdez

et al. 2023

IJMS

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting an estimated 500 million people worldwide, is a genetic disorder that causes human enzymopathies. Biochemical and genetic studies have identified several variants that produce different ranges of phenotypes; thus, depending on its severity, this enzymopathy is classified from the mildest (Class IV) to the most severe (Class I). Therefore, understanding the correlation between the mutation sites of G6PD and the resulting phenotype greatly enhances the current knowledge of enzymopathies’ phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments for patients with G6PD deficiency. In this review, we analyzed and compared the structural and functional data from 21 characterized G6PD variants found in the Mexican population that we previously characterized. In order to contribute to the knowledge regarding the function and structure of the variants associated with G6PD deficiency, this review aimed to determine the molecular basis of G6PD and identify how these mutations could impact the structure, stability, and function of the enzyme and its relation with the clinical manifestations of this disease.

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Section: Mutations Of G6pd Variants Affect Its Activity In Different ...mentioning

confidence: 99%

Section: Mutations Of G6pd Variants Affect Its Activity In Different ...mentioning

confidence: 99%

Section: Thermal Inactivation Assaysmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population

Hernández-Ochoa,

Ortega-Cuellar,

González-Valdez

et al. 2023

IJMS

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Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia

Hung,

Chang,

Huang

2024

Pediatrics & Neonatology

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G6PD gene detection in neonatal hyperbilirubinemia and analysis of related risk factors

Huang¹,

Miao²

2024

THC

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BACKGROUND: Hyperbilirubinemia is a common disorder in neonates, with premature infants at higher risk of developing the disorder. OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) gene detection was used to determine the incidence of G6PD deficiency and analyze the etiologies of G6PD deficiency in neonates with hyperbilirubinemia in the Zunyi region with the aim of providing scientific evidence for the clinical diagnosis and treatment. METHODS: For the gene detection, 64 neonates with hyperbilirubinemia were selected as the observation group and 30 normal neonates were selected as the control group, and the risk factors for hyperbilirubinemia were investigated by using multivariate logistic regression analysis. RESULTS: Among the neonates in the observation group, 59 cases had the G1388A mutation (92.19%) and 5 cases had the G1376T mutation (7.81%). No mutation was detected in the control group. In the observation group, the proportion of neonates who were born prematurely, with artificial feeding, with the age of starting feeding of more than 24 h, the time of first bowel movement of more than 24 h, premature rupture of membranes, infection, scalp hematoma, and perinatal asphyxia was higher than that in the control group, and the difference was statistically significant (p< 0.05). Multivariate logistic regression analysis showed that prematurity, infection, scalp hematoma, perinatal asphyxia, the age of starting feeding of more than 24 h, and the time of first bowel movement over 24 h were risk factors for the development of neonatal hyperbilirubinemia (p< 0.05). CONCLUSION: The G1338A and G1376T mutations were important features of the genetics of neonatal hyperbilirubinemia, and genetic detection together with the prevention of prematurity, infection, scalp hematoma, perinatal asphyxia, the age of starting feeding, and the time of first bowel movement would help reduce the incidence of this disease.

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Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency

Cited by 4 publications

References 50 publications

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population

Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia

G6PD gene detection in neonatal hyperbilirubinemia and analysis of related risk factors

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