Abstract
Rationale: Hermansky-Pudlack Syndrome (HPS) is an autosomal recessive disorder in which mutations on one of the six human genes HPS1, ADB3A, HPS3, HPS4, HPS5 and HPS6 results in impairment of lysosomal transport. Along with melanosomes, platelet dense bodies and lysosomes, HPS also results in impaired processing of lamellar bodies of type II pneumocytes – the lysosome related organelles, responsible for surfactant trafficking in the lungs. The most serious complication of HPS is severe pulmonary fibrosis, which is almost indistinguishable from clinical Idiopathic Pulmonary Fibrosis (IPF). In the present study, we investigated biochemical surfactant alterations in lung tissue and bronchoalveolar lavage fluid (BALF) from HPS 1/6 (ep/ru) double mutant mice.
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