Linked Life Data

10068684

Source:http://linkedlifedata.com/resource/pubmed/id/10068684

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1999-3-30
pubmed:abstractText
Chronic granulomatous disease (CGD) is a disorder of host defense due to genetic defects of the superoxide (O2-) generating NADPH oxidase in phagocytes. A membrane-bound cytochrome b558, a heterodimer consisting of gp91-phox and p22-phox, is a critical component of the oxidase. The X-linked form of the disease is due to defects in the gp91-phox gene. We report here biochemical and genetic analyses of patients with typical and atypical X-linked CGD. Immunoblots showed that neutrophils from one patient had small amounts of p22-phox and gp91-phox and a low level of O2- forming oxidase activity, in contrast to the complete absence of both subunits in two patients with typical CGD. Using polymerase chain reactions (PCR) on cDNA and genomic DNA, we found novel missense mutations of gp91-phox in the two typical patients and a point mutation in the variant CGD, a characteristic common to two other patients with similar variant CGD reported previously. Spectrophotometric analysis of the neutrophils from the variant patient provided evidence for the presence of heme of cytochrome b558. Recently, we reported another variant CGD with similar amounts of both subunits, but without oxidase activity or the heme spectrum. A predicted mutation at amino acid 101 in gp91-phox was also confirmed in this variant CGD by PCR of the genomic DNA. These results on four patients, including those with two variant CGD, are discussed with respect to the missense mutated sites and the heme binding ligands in gp91-phox.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
93
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2098-104
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:10068684-Adult, pubmed-meshheading:10068684-Child, pubmed-meshheading:10068684-Cytochrome b Group, pubmed-meshheading:10068684-DNA, pubmed-meshheading:10068684-Genetic Linkage, pubmed-meshheading:10068684-Granulomatous Disease, Chronic, pubmed-meshheading:10068684-Humans, pubmed-meshheading:10068684-Male, pubmed-meshheading:10068684-Membrane Glycoproteins, pubmed-meshheading:10068684-Membrane Transport Proteins, pubmed-meshheading:10068684-Mutation, Missense, pubmed-meshheading:10068684-NADPH Dehydrogenase, pubmed-meshheading:10068684-NADPH Oxidase, pubmed-meshheading:10068684-Neutrophils, pubmed-meshheading:10068684-Phagocytes, pubmed-meshheading:10068684-Phosphoproteins, pubmed-meshheading:10068684-Polymerase Chain Reaction, pubmed-meshheading:10068684-Spectrophotometry, pubmed-meshheading:10068684-Superoxides, pubmed-meshheading:10068684-X Chromosome
pubmed:year
1999
pubmed:articleTitle
Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease.
pubmed:affiliation
Departments of Inflammation Research and Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't