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1Department of Biology, Clark University, Worcester, Massachusetts 01610; 2Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo 14263 and 4Department of Rehabilitation Science, State University of New York at Buffalo, Buffalo, New York 14214; and 3Department of Environmental Health, Division of Toxicology, University of Cincinnati Medical Center, Cincinnati, Ohio 45267
Submitted 24 January 2003 ; accepted in final form 21 May 2003
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease causing hypopigmentation and prolonged bleeding times. An additional serious clinical problem of HPS is the development of lung pathology, which may lead to severe lung disease and premature death. No cure for the disease exists, and previously, no animal model for the HPS lung abnormalities has been reported. A mouse model of HPS, which is homozygously recessive for both the Hps1 (pale ear) and Hps2 (pearl) genes, exhibits striking abnormalities of lung type II cells. Type II cells and lamellar bodies of this mutant are greatly enlarged, and the lamellar bodies are engorged with surfactant. Mutant lungs accumulate excessive autofluorescent pigment. The air spaces of mutant lungs contain age-related elevations of inflammatory cells and foamy macrophages. In vivo measurement of lung hysteresivity demonstrated aberrant lung function in mutant mice. All these features are similar to the lung pathology described in HPS patients. Morphometry of mutant lungs indicates a significant emphysema. These mutant mice provide a model to further investigate the lung pathology and therapy of HPS. We hypothesize that abnormal type II cell lamellar body structure/function may predict future lung pathology in HPS.
inherited lung dysfunction; inflammation; surfactant protein; lamellar body; secretion
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