Jpn. J. Infect. Dis., 57, S4-S5, 2004
To see a printable version of the article
in the Adobe file format, click this [PDF] link.
Lessons from MPO Deficiency about Functionally
Important Structural Features
William M. Nauseef*
Inflammation Program and Department of Medicine, University
of Iowa and
Veterans Administration Medical Center, Iowa, USA
*Corresponding author: william-nauseef@uiowa.edu
SUMMARY: Genetic abnormalities often serve as the catalyst to
stimulate critical insights into normal biology. In
many cases, examining such experiments of Nature explicates not
only the abnormal but also serves to illustrate
underlying normal principles. Within the context of myeloperoxidase
biosynthesis, we have examined the impact of
specific missense mutations that cause inherited myeloperoxidase
deficiency. Such studies have provided novel
insights not otherwise possible. We have described three such
mutations and are completing the analysis of a
fourth.