Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2024 Oct 26

PMID 39457053

Authors

Xiao Hu

Zhixiao Wei

YuMeng Wu

Manhan Zhao

Liming Zhou

Qiong Lin

Affiliations

Soon will be listed here.

Abstract

Hermansky-Pudlak syndrome (HPS)-associated pulmonary fibrosis (HPS-PF) is a progressive lung disease that is a major cause of morbidity and mortality in HPS patients. Previous studies have demonstrated that the HPS proteins play an essential role in the biogenesis and function of lysosome-related organelles (LROs) in alveolar epithelial type II (AT2) cells and found that HPS-PF is associated with dysfunction of AT2 cells and abnormal immune reactions. Despite recent advances in research on HPS and the pathology of HPS-PF, the pathological mechanisms underlying HPS-PF remain poorly understood, and no effective treatment has been established. Therefore, it is necessary to refresh the progress in the pathogenesis of HPS-PF to increase our understanding of the pathogenic mechanism of HPS-PF and develop targeted therapeutic strategies. This review summarizes the recent progress in the pathogenesis of HPS-PF provides information about the current treatment strategies for HPS-PF, and hopefully increases our understanding of the pathogenesis of HPS-PF and offers thoughts for new therapeutic interventions.

References

Guttentag S, Akhtar A, Tao J, Atochina E, Rusiniak M, Swank R . Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol. 2005; 33(1):14-21. PMC: 2715302. DOI: 10.1165/rcmb.2004-0293OC. View

Zhang X, Ali M, Pantuck M, Yang X, Lin C, Bahmed K . CD8 T cell response and its released cytokine IFN-γ are necessary for lung alveolar epithelial repair during bacterial pneumonia. Front Immunol. 2023; 14:1268078. PMC: 10639165. DOI: 10.3389/fimmu.2023.1268078. View

Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S . Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet. 1998; 62(3):593-8. PMC: 1376951. DOI: 10.1086/301757. View

Young L, Gulleman P, Short C, Tanjore H, Sherrill T, Qi A . Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome. JCI Insight. 2016; 1(17):e88947. PMC: 5070955. DOI: 10.1172/jci.insight.88947. View

Ho T, Warr M, Adelman E, Lansinger O, Flach J, Verovskaya E . Autophagy maintains the metabolism and function of young and old stem cells. Nature. 2017; 543(7644):205-210. PMC: 5344718. DOI: 10.1038/nature21388. View

Bechtel W, McGoohan S, Zeisberg E, Muller G, Kalbacher H, Salant D . Methylation determines fibroblast activation and fibrogenesis in the kidney. Nat Med. 2010; 16(5):544-50. PMC: 3106179. DOI: 10.1038/nm.2135. View

Liu Y, Wen D, Ho C, Yu L, Zheng D, OReilly S . Epigenetics as a versatile regulator of fibrosis. J Transl Med. 2023; 21(1):164. PMC: 9983257. DOI: 10.1186/s12967-023-04018-5. View

Kandasamy J, Olave N, Ballinger S, Ambalavanan N . Vascular Endothelial Mitochondrial Function Predicts Death or Pulmonary Outcomes in Preterm Infants. Am J Respir Crit Care Med. 2017; 196(8):1040-1049. PMC: 5649986. DOI: 10.1164/rccm.201702-0353OC. View

Wenham M, Grieve S, Cummins M, Jones M, Booth S, Kilner R . Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica. 2009; 95(2):333-7. PMC: 2817039. DOI: 10.3324/haematol.2009.012286. View

10.

Huizing M, Pederson B, Hess R, Griffin A, Helip-Wooley A, Westbroek W . Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet. 2009; 46(12):803-10. PMC: 3500784. DOI: 10.1136/jmg.2008.065961. View

11.

De Jesus Rojas W, Young L . Hermansky-Pudlak Syndrome. Semin Respir Crit Care Med. 2020; 41(2):238-246. DOI: 10.1055/s-0040-1708088. View

12.

Seward Jr S, Gahl W . Hermansky-Pudlak syndrome: health care throughout life. Pediatrics. 2013; 132(1):153-60. DOI: 10.1542/peds.2012-4003. View

13.

Kirshenbaum A, Cruse G, Desai A, Bandara G, Leerkes M, Lee C . Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. PLoS One. 2016; 11(7):e0159177. PMC: 4961407. DOI: 10.1371/journal.pone.0159177. View

14.

Webbers S, Aarts C, Klein B, Koops D, Geissler J, Tool A . Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils. Life Sci Alliance. 2024; 7(4). PMC: 10796564. DOI: 10.26508/lsa.202302263. View

15.

Cabrera S, Maciel M, Herrera I, Nava T, Vergara F, Gaxiola M . Essential role for the ATG4B protease and autophagy in bleomycin-induced pulmonary fibrosis. Autophagy. 2015; 11(4):670-84. PMC: 4502665. DOI: 10.1080/15548627.2015.1034409. View

16.

Zhong Z, Wu Z, Zhang J, Chen J . A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption. Pigment Cell Melanoma Res. 2021; 34(6):1112-1119. DOI: 10.1111/pcmr.12995. View

17.

Ying H, Fang M, Hang Q, Chen Y, Qian X, Chen M . Pirfenidone modulates macrophage polarization and ameliorates radiation-induced lung fibrosis by inhibiting the TGF-β1/Smad3 pathway. J Cell Mol Med. 2021; 25(18):8662-8675. PMC: 8435416. DOI: 10.1111/jcmm.16821. View

18.

Avila N, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl W . Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol. 2002; 179(4):887-92. DOI: 10.2214/ajr.179.4.1790887. View

19.

Lv Q, Wang J, Xu C, Huang X, Ruan Z, Dai Y . Pirfenidone alleviates pulmonary fibrosis in vitro and in vivo through regulating Wnt/GSK-3β/β-catenin and TGF-β1/Smad2/3 signaling pathways. Mol Med. 2020; 26(1):49. PMC: 7245944. DOI: 10.1186/s10020-020-00173-3. View

20.

Doubkova M, Trizuljak J, Vrzalova Z, Hrazdirova A, Blahakova I, Radova L . Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC Pulm Med. 2019; 19(1):178. PMC: 6794755. DOI: 10.1186/s12890-019-0941-4. View