Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies

IF 3.7 3区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
IUBMB Life Pub Date : 2025-05-19 DOI:10.1002/iub.70025
Francesca Tondi, Roberta Annamaria Cirsmaru, Chiara Conti, Antonia Follenzi, Paolo Gresele, Cristina Olgasi, Loredana Bury
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引用次数: 0

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome-related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells. Key features of HPS include oculocutaneous albinism, bleeding tendency, and, in some cases, pulmonary fibrosis, granulomatous colitis, and immunodeficiency. The condition is linked to mutations in 11 genes involved in the formation of LROs. Currently, treatment options for HPS are limited and often ineffective. Though cell and gene therapies have been explored for melanosomes and epithelial cells, there is limited knowledge about their application to platelets and endothelial cells. Understanding the detailed mechanisms of HPS pathogenesis is crucial, and using induced pluripotent stem cell (iPSC) models may provide valuable insights into the disease's molecular processes, aiding the development of new treatments. In this review, we will focus on the genetics and molecular mechanisms of HPS, on its clinical manifestations and current therapeutic approaches, highlighting the need for further research into the disease mechanisms and potential innovative therapies.

Hermansky-Pudlak综合征:从分子发病机制到靶向治疗
Hermansky-Pudlak综合征(HPS)是一种罕见的遗传性疾病,由多种组织中溶酶体相关细胞器(LROs)的缺陷引起,包括血小板、黑色素细胞和内皮细胞。HPS的主要特征包括皮肤白化、出血倾向,在某些情况下,还包括肺纤维化、肉芽肿性结肠炎和免疫缺陷。这种情况与参与LROs形成的11个基因的突变有关。目前,HPS的治疗方案有限,而且往往无效。虽然细胞和基因疗法已经探索了黑素体和上皮细胞,但它们在血小板和内皮细胞中的应用知识有限。了解HPS发病机理的详细机制是至关重要的,使用诱导多能干细胞(iPSC)模型可能为疾病的分子过程提供有价值的见解,有助于开发新的治疗方法。本文将从HPS的遗传学和分子机制、临床表现和目前的治疗方法等方面进行综述,并强调进一步研究HPS的发病机制和潜在的创新治疗方法的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
IUBMB Life
IUBMB Life 生物-生化与分子生物学
CiteScore
10.60
自引率
0.00%
发文量
109
审稿时长
4-8 weeks
期刊介绍: IUBMB Life is the flagship journal of the International Union of Biochemistry and Molecular Biology and is devoted to the rapid publication of the most novel and significant original research articles, reviews, and hypotheses in the broadly defined fields of biochemistry, molecular biology, cell biology, and molecular medicine.
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