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Review
. 2022 May;35(3):290-302.
doi: 10.1111/pcmr.13030. Epub 2022 Feb 13.

New insights into the pathogenesis of Hermansky-Pudlak syndrome

Wei Li  1   2 , Chan-Juan Hao  1   2 , Zhen-Hua Hao  1   2 , Jing Ma  1   2 , Qiao-Chu Wang  1   2 , Ye-Feng Yuan  1   2 , Juan-Juan Gong  1   2 , Yuan-Ying Chen  1   2 , Jia-Ying Yu  1   2 , Ai-Hua Wei  3
Affiliations
Review

New insights into the pathogenesis of Hermansky-Pudlak syndrome

Wei Li et al. Pigment Cell Melanoma Res. 2022 May.

Abstract

Hermansky-Pudlak syndrome (HPS) is characterized by defects of multiple tissue-specific lysosome-related organelles (LROs), typically manifesting with oculocutaneous albinism or ocular albinism, bleeding tendency, and in some cases with pulmonary fibrosis, inflammatory bowel disease or immunodeficiency, neuropsychological disorders. Eleven HPS subtypes in humans and at least 15 subtypes in mice have been molecularly identified. Current understanding of the underlying mechanisms of HPS is focusing on the defective biogenesis of LROs. Compelling evidences have shown that HPS protein-associated complexes (HPACs) function in cargo transport, cargo recycling, and cargo removal to maintain LRO homeostasis. Further investigation on the molecular and cellular mechanism of LRO biogenesis and secretion will be helpful for better understanding of its pathogenesis and for the precise intervention of HPS.

Keywords: HPS protein-associated complex; Hermansky-Pudlak syndrome; biogenesis; lysosome-related organelle; secretion.

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