| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH |
|
|
|
|||||||
|
|||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Department of Biology, Clark University, Worcester, Massachusetts, USA
2 Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York, USA
3 Department of Environmental Health, Division of Toxicology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
4 Department of Rehabilitation Science, State University of New York at Buffalo, Buffalo, New York, USA
* To whom correspondence should be addressed. E-mail: Richard.Swank{at}roswellpark.org.
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 had 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 measurements 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.
This article has been cited by other articles:
|
|
 |
|
  K. Osanai, R. Oikawa, J. Higuchi, M. Kobayashi, K. Tsuchihara, M. Iguchi, H. Jongsu, H. Toga, and D. R. Voelker A Mutation in Rab38 Small GTPase Causes Abnormal Lung Surfactant Homeostasis and Aberrant Alveolar Structure in Mice Am. J. Pathol., November 1, 2008; 173(5): 1265 - 1274. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. M. Berkmen and B. M. Dsouza Case 124: Hermansky-Pudlak Syndrome Radiology, November 1, 2007; 245(2): 595 - 599. [Full Text] [PDF]
|
|
|
|
 |
|
 A. V. Andreeva, M. A. Kutuzov, and T. A. Voyno-Yasenetskaya Regulation of surfactant secretion in alveolar type II cells Am J Physiol Lung Cell Mol Physiol, August 1, 2007; 293(2): L259 - L271. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. R. Young, R. Pasula, P. M. Gulleman, G. H. Deutsch, and F. X. McCormack Susceptibility of Hermansky-Pudlak Mice to Bleomycin-Induced Type II Cell Apoptosis and Fibrosis Am. J. Respir. Cell Mol. Biol., July 1, 2007; 37(1): 67 - 74. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Chintala, J. Tan, R. Gautam, M. E. Rusiniak, X. Guo, W. Li, W. A. Gahl, M. Huizing, R. A. Spritz, S. Hutton, et al. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules Blood, February 15, 2007; 109(4): 1533 - 1540. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. H. Guttentag, A. Akhtar, J.-Q. Tao, E. Atochina, M. E. Rusiniak, R. T. Swank, and S. R. Bates Defective Surfactant Secretion in a Mouse Model of Hermansky-Pudlak Syndrome Am. J. Respir. Cell Mol. Biol., July 1, 2005; 33(1): 14 - 21. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. E. Vlahakis and R. D. Hubmayr Cellular Stress Failure in Ventilator-injured Lungs Am. J. Respir. Crit. Care Med., June 15, 2005; 171(12): 1328 - 1342. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH |
| Visit Other APS Journals Online |
