Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice

Abstract Mucopolysaccharidosis type II (MPS II) is caused by a deficiency in iduronate-2-sulfatase (Ids), an enzyme that catabolizes glycosaminoglycan (GAG). Ids insufficiency results in the accumulation of GAG in various organs, ultimately resulting in multisystemic disease. Trehalose, a non-reduci...

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Main Authors: Hyesook Lee, Jung-Hwa Han, Roo Gam Jeong, Yun Jeong Kang, Byung Hyun Choi, Seo Rin Kim, Chong Kun Cheon, Jin Hur, Soo Yong Lee
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-88362-0
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author Hyesook Lee
Jung-Hwa Han
Roo Gam Jeong
Yun Jeong Kang
Byung Hyun Choi
Seo Rin Kim
Chong Kun Cheon
Jin Hur
Soo Yong Lee
author_facet Hyesook Lee
Jung-Hwa Han
Roo Gam Jeong
Yun Jeong Kang
Byung Hyun Choi
Seo Rin Kim
Chong Kun Cheon
Jin Hur
Soo Yong Lee
author_sort Hyesook Lee
collection DOAJ
description Abstract Mucopolysaccharidosis type II (MPS II) is caused by a deficiency in iduronate-2-sulfatase (Ids), an enzyme that catabolizes glycosaminoglycan (GAG). Ids insufficiency results in the accumulation of GAG in various organs, ultimately resulting in multisystemic disease. Trehalose, a non-reducing disaccharide, has shown protective effects against various diseases. However, its potential utility through oral administration in MPS II has not yet been explored. In the present study, to investigate the efficacy of oral trehalose in Ids-knock-out (KO) mice, Ids-KO and wild type (WT) mice were treated with 2% trehalose dissolved in distilled water ad libitum for 24 weeks. Histological analysis revealed that almost all tissues from Ids-KO mice exhibited abnormal changes, including large vacuolization, inflammatory cell infiltration, and GAG deposition. However, oral administration of trehalose significantly suppressed GAG levels, vacuolization, inflammation and apoptosis in the spleen and brain. Additionally, oral trehalose considerably improved cognitive functions, such as short-term spatial learning and working memory, alongside limited improvements in walking capacity in Ids-KO mice. These results suggest that oral trehalose can reduce GAG accumulation, vacuolization and the number of apoptotic and inflammatory cells in pathological tissues including the brain, ultimately considerably improving spontaneous alteration behavior and could be a promising treatment option for MPS II.
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spelling doaj-art-1e34233a739e4be58f18c256db4574c02025-08-20T02:48:22ZengNature PortfolioScientific Reports2045-23222025-02-0115111210.1038/s41598-025-88362-0Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient miceHyesook Lee0Jung-Hwa Han1Roo Gam Jeong2Yun Jeong Kang3Byung Hyun Choi4Seo Rin Kim5Chong Kun Cheon6Jin Hur7Soo Yong Lee8Department of Convergence Medicine, Pusan National University School of MedicineDepartment of Convergence Medicine, Pusan National University School of MedicineDepartment of Convergence Medicine, Pusan National University School of MedicineDepartment of Convergence Medicine, Pusan National University School of MedicineResearch Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan HospitalResearch Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan HospitalDepartment of Pediatrics, School of Medicine, Pusan National University Children’s HospitalDepartment of Convergence Medicine, Pusan National University School of MedicineResearch Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan HospitalAbstract Mucopolysaccharidosis type II (MPS II) is caused by a deficiency in iduronate-2-sulfatase (Ids), an enzyme that catabolizes glycosaminoglycan (GAG). Ids insufficiency results in the accumulation of GAG in various organs, ultimately resulting in multisystemic disease. Trehalose, a non-reducing disaccharide, has shown protective effects against various diseases. However, its potential utility through oral administration in MPS II has not yet been explored. In the present study, to investigate the efficacy of oral trehalose in Ids-knock-out (KO) mice, Ids-KO and wild type (WT) mice were treated with 2% trehalose dissolved in distilled water ad libitum for 24 weeks. Histological analysis revealed that almost all tissues from Ids-KO mice exhibited abnormal changes, including large vacuolization, inflammatory cell infiltration, and GAG deposition. However, oral administration of trehalose significantly suppressed GAG levels, vacuolization, inflammation and apoptosis in the spleen and brain. Additionally, oral trehalose considerably improved cognitive functions, such as short-term spatial learning and working memory, alongside limited improvements in walking capacity in Ids-KO mice. These results suggest that oral trehalose can reduce GAG accumulation, vacuolization and the number of apoptotic and inflammatory cells in pathological tissues including the brain, ultimately considerably improving spontaneous alteration behavior and could be a promising treatment option for MPS II.https://doi.org/10.1038/s41598-025-88362-0
spellingShingle Hyesook Lee
Jung-Hwa Han
Roo Gam Jeong
Yun Jeong Kang
Byung Hyun Choi
Seo Rin Kim
Chong Kun Cheon
Jin Hur
Soo Yong Lee
Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
Scientific Reports
title Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
title_full Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
title_fullStr Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
title_full_unstemmed Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
title_short Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice
title_sort oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type ii in iduronate 2 sulfatase deficient mice
url https://doi.org/10.1038/s41598-025-88362-0
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