Lessons from MPO deficiency about functionally important structural features.
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.
Nauseef
William M
WM
Inflammation Program and Department of Medicine, University of Iowa, Veterans Administration Medical Center, Iowa, USA. william-nauseef@uiowa.edu
D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D009504:Neutrophils / Q000276:immunology*; D009195:Peroxidase / Q000172:deficiency* / Q000235:genetics
D009195:Peroxidase