PMID: 59010Jun 26, 1976

Characterisation of the enzyme defect in chronic granulomatous disease

Lancet
A W Segal, T J Peters

Abstract

Strikingly reduced activity of an enzyme, normally located in the plasma membrane of human neutrophils, has been demonstrated in a male patient with chronic granulomatous disease (C.G.D.). The subcellular distribution of N.A.D.H.-dependent reduction of nitroblue tetrazolium (N.B.T.) was determined in neutrophils because reduction of this dye by these patients is grossly impaired. Assayed at high concentrations of N.A.D.H. (1 mmol/1), N.B.T. is reduced by enzymes in the cytosol and mitochondria in addition to the plasma membrane by both normal and C.G.D. cells--properties which previously obscured the identity and location of this enzyme. At a more physiological concentration of N.A.D.H. (25 mumol/1), reduction of the dye by the plasma membrane, the principal site of N.B.T. reduction by normal neutrophils, was absent in the patient with C.G.D. It is suggested that absence or imperfect function of this reductase enzyme is the primary lesion in this disease.

Citations

Dec 1, 1979·Irish Journal of Medical Science·J GreallyP Deasy
May 30, 2008·Seminars in Immunopathology·Marie José Stasia, Xing Jun Li
Jul 31, 1978·Biochimica Et Biophysica Acta·H Löw, F L Crane
Jan 1, 1988·Free Radical Biology & Medicine·P Bellavite
Oct 21, 1994·Biochimica Et Biophysica Acta·A J ThrasherA W Segal
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May 17, 1979·The New England Journal of Medicine·J A BadweyM L Karnovsky
Nov 1, 1977·Acta paediatrica Scandinavica·Y H Thong, V Rencis
Jan 1, 1978·Scandinavian Journal of Infectious Diseases·B ElgeforsH Peterson
Oct 27, 2017·PloS One·Madhur P MotwaniDerek W Gilroy
Sep 8, 2004·Microscopy Research and Technique·Tytus Bernas, Jurek W Dobrucki
Dec 15, 2017·Clinical Pharmacology and Therapeutics·Madhur P MotwaniDerek W Gilroy
Jun 1, 1983·European Journal of Clinical Investigation·N BorregaardN H Valerius
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Sep 30, 2000·Clinical and Experimental Immunology·D Goldblatt, A J Thrasher
Sep 21, 2018·International Journal of Molecular Sciences·Svantje TauberOliver Ullrich
Jan 23, 2021·Biology·Peter RapplTobias Schmid

Related Concepts

Plasma Membrane
Glucose, (beta-D)-Isomer
NAD(P)H Nitroblue Tetrazolium Reductase
NADH, NADPH Oxidoreductases
Neutrophil Band Cells
Oxygen Consumption
Phagocyte Bactericidal Dysfunction
Phagocytosis
Tetrazolium Salts

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