title: Correlation of messenger RNA levels with protein defects in specific granule deficiency.
abstract: Neutrophil specific granule deficiency (SGD) is a rare congenital disorder of unknown cause associated with an impaired inflammatory response and an absence of neutrophil secondary granules. Reduced levels of several neutrophil proteins have led to the suggestion that the defect may lie at the level of transcription, a hypothesis that is supported by abnormally low levels of lactoferrin message in the bone marrow of two SGD patients. We have examined the level of seven granule protein RNAs in one SGD patient and have compared them with reported protein levels. We have found the RNA levels for all of these genes to be reduced in proportion to the decreased levels of their respective proteins. These data further support the hypothesis that the reduced protein levels reflect a defect in transcriptional control.
authors.affiliation: Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06515.
authors.forename: J J
authors.initials: JJ
authors.lastname: Johnston
authors.forename: L A
authors.initials: LA
authors.lastname: Boxer
authors.forename: N
authors.initials: N
authors.lastname: Berliner
mesh_terms: D001798:Blood Proteins / Q000172:deficiency* / Q000235:genetics*; D015152:Blotting, Northern; D001854:Bone Marrow Cells; D017364:Collagenases / Q000235:genetics; D003594:Cytoplasmic Granules / Q000378:metabolism*; D023082:Defensins; D005780:Gelatin / Q000378:metabolism; D006402:Hematologic Diseases / Q000235:genetics*; D006801:Humans; D007781:Lactoferrin / Q000235:genetics; D008666:Metalloendopeptidases / Q000235:genetics; D009504:Neutrophils / Q000648:ultrastructure*; D009195:Peroxidase / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism*; D014155:Transcobalamins / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D001798:Blood Proteins; D023082:Defensins; D012333:RNA, Messenger; D014155:Transcobalamins; D005780:Gelatin; D009195:Peroxidase; D007781:Lactoferrin; D017364:Collagenases; D008666:Metalloendopeptidases