《生命科学》 2024, 36(11): 1386-1396

Hermansky-Pudlak综合征(HPS)的分子病理机制

彭子洛 , 林　琼^*

江苏大学医学院，镇江 212013

摘　要：

Hermansky-Pudlak 综合征(HPS) 是一种具有多种临床表现的遗传性疾病，如皮肤白化、出血倾向、免疫改变、间质性肺纤维化和肉芽肿性结肠炎。从HPS 患者中鉴定出了多个HPS 基因及其突变。大多数HPS 基因编码溶酶体相关细胞器生物发生复合物(BLOCs) 的亚基成分，这些成分调节溶酶体相关细胞器(LROs) 的生物发生。现就LROs 在HPS 中的病理作用以及BLOCs 调控的HPS 相关细胞和分子事件研究进展进行综述，希望能够加深对HPS 病理机制的理解，并促进对HPS 患者的治疗。

通讯作者：林　琼 , Email:qlin@ujs.edu.cn

Pathological mechanism underlying Hermansky-Pudlak syndrome (HPS)

PENG Zi-Luo , LIN Qiong^*

School of Medicine, Jiangsu University, Jiangsu 212013, China

Abstract:

Hermansky-Pudlak syndrome (HPS) is a genetic disease with diverse manifestations such as oculocutaneous albinism, bleeding tendency, immunological changes, interstitial pulmonary fibrosis, and granulomatous colitis. Multiple HPS genes and their mutations have been identified. The majority of HPS genes encode components of biogenesis of lysosome-related organelles complexes (BLOCs) that regulate the biogenesis of lysosome-related organelles (LROs). Here we review the research progress in pathological roles of LROs in HPS and BLOCs-regulated cellular and molecular events related to HPS, aiming to facilitate our understanding of the pathological mechanism underlying HPS and benefit the treatment of HPS.

Communication Author：LIN Qiong , Email:qlin@ujs.edu.cn