Altered autophagy in Hermansky-Pudlak syndrome associated interstitial pneumonia

Introduction: Autophagy is a self-destructive, lysosomal catabolic pathway and is known from several decades as an adaptation to starvation. Basal autophagy is extremely important in turn-over of long lived proteins. Defective or severely altered macroautophagy has been reported and has been implicated in the pathogenesis of many lysosome related disorders. Hermansky-Pudlak syndrome (HPS) is one such lysosome realated disorder, affecting several lysosome-related organelles of the body. Several HPS mutations have been identified so far, but patients only with HPS types -1 & -4 develop pulmonary fibrosis called He…