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Point mutations in the beta-subunit of cytochrome b558 leading to X- linked
chronic granulomatous disease
BG Bolscher, M de Boer, A de Klein, RS Weening and D Roos
Central Laboratory of the Netherlands Red Cross Blood Transfusion Service,
Amsterdam.
The NADPH:O2 oxidoreductase of phagocytic leukocytes is an important enzyme
for the bactericidal activity of these cells. Cytochrome b558 is a membrane
component of this enzyme. In X-linked chronic granulomatous disease (Xb-
CGD) the phagocytes are defective in the beta-subunit (gp91-phox) of this
cytochrome. We have studied the genetic defect in a group of six X-linked
CGD patients characterized by complete or partial loss of cytochrome b558
with the use of the polymerase chain reaction. All patients had a different
single point mutation in the gp91-phox gene, indicating that the genetic
defect in Xb- CGD is very heterogeneous. In one patient the mutation leads
to a premature termination codon. In the other five cases these mutations
predict incorporation of a different amino acid. The mutations were with
one exception found in the N-terminal half of the protein, suggesting that
this part of cytochrome b558 is important for the binding of the heme or
for formation of a stable complex with p22-phox. Two histidyl residues were
found that might be ligands of the heme iron.
Volume 77,
Issue 11,
pp. 2482-2487,
06/01/1991
Copyright © 1991 by The American Society of Hematology
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