The role of ceroid in lung and gastrointestinal disease in Hermansky-Pudlak syndrome

Advances in Experimental Medicine and Biology
C J WitkopK R Harmon

Abstract

Studies of ceroid associated lesions in Hermansky-Pudlak syndrome (HPS) indicate that restrictive lung disease and granulomatous gastrointestinal lesions are among the most frequent and account for 60% of the deaths of the patients. No defects in the immune system in HPS were found. Histological, ultrastructural and chemical studies show accumulation of non-biodegradable ceroid in tissue cells and associated macrophages of HPS patients. There is no known degradative pathway for ceroid. Ceroid is eliminated from cells by exocytosis. Wild type and pale eared mice treated with leupeptin, which inhibits exocytosis, accumulate ceroid in organ cells in the same sequence seen in HPS. Young HPS patients without significant pulmonary function deficits were lavaged, the macrophages examined by TEM and tested for platelet derived growth factor. Macrophages contained ceroid and 7/12 patients had 27 +/- 42 units of PDGF bioactivity compared to zero activity in controls. Purified ceroid was fed to macrophages lavaged from the lungs of non-smoking control subjects. Prior to feeding, less than 5% of cells contained one or two small yellow-orange autofluorescent granules resembling ceroid. After feeding, approximately 20% of control cells had i...Continue Reading

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Related Papers

Journal of Clinical Gastroenterology
Adrian J Mora, David M Wolfsohn
American Journal of Respiratory Cell and Molecular Biology
Lisa R YoungFrancis X McCormack
American Journal of Respiratory and Critical Care Medicine
Lisa R YoungFrancis X McCormack
© 2022 Meta ULC. All rights reserved