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Molecular analysis of myeloperoxidase deficiency shows heterogeneous
patterns of the complete deficiency state manifested at the genomic, mRNA,
and protein levels
ME Selsted, CW Miller, MJ Novotny, WL Morris and HP Koeffler
Department of Pathology, University of California, Irvine.
Myeloperoxidase (MPO) is a glycosylated hemoprotein contained in the
azurophil granules of human polymorphonuclear leukocytes (PMNs). MPO is
thought to play a role in the oxidative antimicrobial activity of
neutrophils by catalyzing the formation of hypochlorous acid, a potent
microbicide, from hydrogen peroxide and chloride anions. Seven unrelated
individuals with complete MPO deficiency, a relatively common heritable
defect of neutrophils, were identified during routine blood tests.
Molecular analyses were conducted to determine the level of the abnormality
in these individuals. Western blot analysis showed that 6 of the 7 donors
were devoid of immunoreactive MPO protein, while neutrophils from one
individual contained only the 55-Kd subunit. Northern analysis of bone
marrow RNA from one MPO-deficient donor showed the presence of the
normal-sized 3.3-kb transcript indicating that the defect in MPO
biosynthesis in this case was posttranscriptional. Southern analysis of
four MPO-deficient donors showed a normal Bgl II digestion pattern, whereas
an abnormal restriction pattern was observed in a fifth individual.
Although the Bgl II pattern was similar to that observed in an unrelated
subject described by Nauseef (Blood 73:290, 1989), our study strongly
suggests that the point mutation does not reflect a polymorphism. Taken
together, these analyses show the existence of diverse abnormalities
associated with MPO-deficiency that may be detected at the level of the MPO
polypeptide, mRNA, and gene.
Volume 82,
Issue 4,
pp. 1317-1322,
08/15/1993
Copyright © 1993 by The American Society of Hematology
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