Analytical subcellular fractionation of neutrophils from patients with chronic granulomatous disease. Demonstration of the enzyme defect in four cases.
Analytical subcellular fractionation studies were performed on neutrophils from five patients, including two females, with chronic granulomatous disease. The density distribution and marker enzyme activities of the principal subcellular organelles in unstimulated cells were similar to those in unstimulated neutrophils from control subjects. NADH dependent reduction of nitroblue tetrazolium was measured in four of the patients including one female. In homogenates of whole cells the specific activity of this enzyme expressed as milliUnits/mg protein was lower in the patients than in the controls, but the difference was not statistically significant. There was however a highly significant difference between the specific activities of this enzyme in the plasma membrane fractions isolated from neutrophils of the four patients and the three controls. These findings suggest that the primary microbicidal oxidase of neutrophils, defective function of which manifests as the syndrome of chronic granulomatous disease, is a plasma membrane NADH oxidoreductase.
D000293:Adolescent; D000328:Adult; D002462:Cell Membrane / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000201:enzymology*; D006801:Humans; D008297:Male; D009246:NADH Tetrazolium Reductase / Q000378:metabolism; D009247:NADH, NADPH Oxidoreductases / Q000378:metabolism; D009504:Neutrophils / Q000201:enzymology*; D013347:Subcellular Fractions / Q000201:enzymology
D009246:NADH Tetrazolium Reductase; D009247:NADH, NADPH Oxidoreductases