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    Chronic granulomatous disease and glutathione peroxidase deficiency, revisited

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    Authors
    Newburger, Peter E.
    Malawista, Stephen E.
    Dinauer, Mary C.
    Gelbart, Terri
    Woodman, Richard C.
    Chada, Sunil
    Shen, Qichang
    van Blaricom, Gretchen
    Quie, Paul G.
    Curnutte, John T.
    UMass Chan Affiliations
    Department of Pediatrics
    Department of Molecular Genetics/Microbiology
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    1994-12-01
    Keywords
    Adult
    Base Sequence
    Cytochrome b Group
    Female
    Genes
    Genes, Recessive
    Glutathione Peroxidase
    Granulomatous Disease, Chronic
    Humans
    Infant, Newborn
    Linkage (Genetics)
    Male
    Membrane Glycoproteins
    Molecular Sequence Data
    NADH, NADPH Oxidoreductases
    NADPH Oxidase
    Neutrophils
    Pedigree
    Respiratory Burst
    Medical Genetics
    Medical Microbiology
    Medical Molecular Biology
    Pediatrics
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    Abstract
    We have restudied two kindreds that formed the basis of the original report of autosomal recessive chronic granulomatous disease (CGD) associated with leukocyte glutathione peroxidase deficiency. Case 1 from the original study and the surviving brother of the originally reported case 2 both have severe CGD, with no detectable respiratory burst activity in purified intact neutrophils. However, their leukocytes exhibit normal glutathione peroxidase enzyme activity and gene expression. Examination of phagocyte nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase components known to be defective in CGD reveals no detectable cytochrome b558 nor any membrane activity in a cell-free NADPH oxidase assay system. Molecular analysis of the genes encoding cytochrome b558 subunits shows, in case 1, a C-->T substitution at nucleotide 688 of the gene encoding the gp91-phox subunit of cytochrome b558, resulting in a termination signal in place of Arginine-226. Levels of gp91-phox mRNA are markedly decreased despite normal levels of gene transcription, indicating a post-transcriptional effect of the nonsense mutation on mRNA processing or stability. The X-linked form of CGD developed in this cytogenetically normal female due to the uniform inactivation of the normal X chromosome in her granulocytes, indicated by the expression in her granulocyte mRNA of only one allele of a glucose-6-phosphate dehydrogenase polymorphisms for which she is heterozygous in genomic DNA. Case 2 (of the present study) has distinct mutations in each allele of the p22-phox gene.(ABSTRACT TRUNCATED AT 250 WORDS)
    Source
    Blood. 1994 Dec 1;84(11):3861-9.
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/40161
    PubMed ID
    7949143
    Related Resources
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    UMass Chan Faculty and Researcher Publications

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