title: Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in theg6pdgene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in theg6pdgene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations ing6pdgene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.
authors.affiliation: Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud 04530, Mexico. saulmanzo@ciencias.unam.mx.
authors.forename: Saúl
authors.initials: S
authors.lastname: Gómez-Manzo
authors.affiliation: Consejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Pediatría, Secretaría de Salud 04530, Mexico. jmarcialqu@conacyt.mx.
authors.forename: Jaime
authors.initials: J
authors.lastname: Marcial-Quino
authors.affiliation: Laboratorio de Neurociencias, Instituto Nacional de Pediatría, Secretaría de Salud 04530, Mexico. america_vc@yahoo.com.mx.
authors.forename: America
authors.initials: A
authors.lastname: Vanoye-Carlo
authors.affiliation: Consejo Nacional de Ciencia y Tecnología (CONACYT), Laboratorio de Bioingeniería, Universidad de Colima, Colima 28400, Mexico. hjserranopo@conacyt.mx.
authors.forename: Hugo
authors.initials: H
authors.lastname: Serrano-Posada
authors.affiliation: Laboratorio de Nutrición Experimental, Instituto Nacional de Pediatría, Secretaría de Salud 04530, Mexico. dortegadan@gmail.com.
authors.forename: Daniel
authors.initials: D
authors.lastname: Ortega-Cuellar
authors.affiliation: Departamento de Biología Molecular y Biotecnología, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City 04510, Mexico. abigaila@correo.biomedicas.unam.mx.
authors.forename: Abigail
authors.initials: A
authors.lastname: González-Valdez
authors.affiliation: Consejo Nacional de Ciencia y Tecnología (CONACYT), Instituto Nacional de Pediatría, Secretaría de Salud 04530, Mexico. racastilloro@conacyt.mx.
authors.forename: Rosa Angélica
authors.initials: RA
authors.lastname: Castillo-Rodríguez
authors.affiliation: Laboratorio de Inmunoquímica, Hospital Infantil de México Federico Gómez, Mexico City 06720, Mexico. beatrizhb_16@comunidad.unam.mx.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Hernández-Ochoa
authors.affiliation: Colegio de Ciencias y Humanidades, Plantel Casa Libertad, Universidad Autónoma de la Ciudad de México, Mexico City 09620, Mexico. edgar.sierra@uacm.edu.mx.
authors.forename: Edgar
authors.initials: E
authors.lastname: Sierra-Palacios
authors.affiliation: Departamento de Química de Biomacromoléculas, Instituto de Química, Universidad Nacional Autónoma de México, Circuito Exterior s/n, Ciudad Universitaria, Mexico City 04510, Mexico. e-rodriguez-bustamante@ciencias.unam.mx.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Rodríguez-Bustamante
authors.affiliation: Departamento de Química de Biomacromoléculas, Instituto de Química, Universidad Nacional Autónoma de México, Circuito Exterior s/n, Ciudad Universitaria, Mexico City 04510, Mexico. arrespin@unam.mx.
authors.forename: Roberto
authors.initials: R
authors.lastname: Arreguin-Espinosa
mesh_terms: D019295:Computational Biology; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D017382:Reactive Oxygen Species; D005954:Glucosephosphate Dehydrogenase
keywords: bioinformatics tools; clinical manifestations; glucose-6-phosphate dehydrogenase (G6PD) enzyme; mutations; three-dimensional structure