Ask about this productRelated genes to: IDUA antibody
- Gene:
- IDUA NIH gene
- Name:
- iduronidase alpha-L-
- Previous symbol:
- -
- Synonyms:
- MPS1
- Chromosome:
- 4p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: IDUA antibody
Related articles to: IDUA antibody
- Mucopolysaccharidosis type I (MPS-I) is an inherited lysosomal storage disorder characterized by alpha-L-iduronidase deficiency, leading to progressive multi-organ damage and fatal complications. Early treatment is crucial to improve outcomes, particularly in patients with severe phenotypes. We present the first case of successful allogeneic bone marrow transplantation (BMT) for MPS-I in Vietnam. A 10-month-old girl experienced coarse facial features, congenital dermal melanocytosis spots, kyphoscoliosis developmental delay. Laboratory analyses revealed reduced alpha-L-iduronidase activity and elevated urinary glycosaminoglycans, genetic mutations identified two heterozygous mutations in the gene, confirmed the diagnosis of MPS-I. At 3 years old, she underwent allogeneic BMT from an HLA-matched sibling donor following conditioning regimen with busulfan, cyclophosphamide, antithymocyte globulin. Neutrophil engraftment was achieved on day +24, and platelet engrafted on day +32. The post-transplant course was complicated by respiratory deterioration requiring 5 days of mechanical ventilation, which was promptly managed and resolved. No graft-versus-host disease occurred. Post-transplant chimerism showed 95.77% donor-derived cells on day +30 and remained stable at 100% from 2 months. The patient demonstrated improvement in clinical symptoms, accompanied by alpha-L-iduronidase activity returned to normal range, urinary glycosaminoglycan levels decreased and remained stable during follow-up. At 12 months, she demonstrated complete immune reconstitution. This case suggests that allogeneic BMT may be a therapeutic approach for patients with MPS-I in resource-limited settings. - Source: PubMed
Publication date: 2026/08/03
Nguyen-Ngoc-Quynh LeCan-Thi-Bich NgocDang-Anh DuongDang-Thi HaTa-Thi ThoaNguyen-Thanh BinhVu-Chi DungTran-Minh DienCao-Viet Tung - : Despite significant advances in identifying genetic risk factors for multiple sclerosis (MS), the causal involvement of circulating proteins in disease development and severity remains largely unexplored. Understanding these protein-mediated pathways could reveal novel therapeutic opportunities for this complex neurological disorder. : We performed a proteome-wide Mendelian randomization study integrating data from four large-scale protein quantitative trait loci studies to investigate causal relationships between plasma proteins and both MS susceptibility and severity. : Our analysis revealed four plasma proteins with significant causal effects on MS susceptibility: ALPI and MXRA8 were associated with increased risk, while IDUA and NID2 showed protective effects. For disease severity, MANSC1 and LYVE1 were associated with worse disability, whereas CBR1 demonstrated protective effects. : Our study provides genetic evidence supporting associations between specific plasma proteins and MS susceptibility and severity, implicating biological pathways related to gut-brain axis signaling, extracellular matrix remodeling, and oxidative stress. These findings improve our understanding of MS biology and identify candidate proteins for future functional validation, therapeutic investigation, and biomarker research. - Source: PubMed
Publication date: 2026/07/16
Chen KeZou QinYao Yuan - The genetic architecture of idiopathic inflammatory myopathies (IIM) remains incompletely defined. When increasing sample size is not feasible, cross-trait analysis of genetically correlated diseases offer an effective strategy for discovering risk loci. Using summary statistics of IIM and B-cell lymphoma subtypes, we applied conditional false discovery rate (condFDR) and multi-trait analysis of GWAS (MTAG) to detect genetic associations with IIM risk. Single nucleotide polymorphisms (SNPs) outside the human leukocyte antigen (HLA) region meeting significance thresholds (condFDR < 0.01 or p-value < 5×10 for MTAG) were clumped and subjected to both functional annotation in FUMA and Gene Ontology (GO) biological process enrichment analysis using clusterProfiler. We identified six previously unreported loci, including three associated with dermatomyositis (12:58674304:T:C, 13:110799415:C:T, and 17:38103285:G:A) and three associated with polymyositis (PM) (4:971496:T:C, 6:396321:C:T, and 6:32650631:C:A). All non-HLA loci act as expression quantitative trait loci (eQTL) or localize within enhancer regions. Notably, these include cis-eQTLs for known IIM risk-associated genes (GSDMB, DGKQ, SLC26A1, and IDUA), as well as genes implicated in synaptic vesicle cycle (SVC) pathways, immune regulation (IKZF3, ORMDL3, IRF4, DUSP22, and SPON2), protein homeostasis (ATP23 and PSMD3), lipid metabolism (PGAP3, ORMDL3, STARD3, and DGKQ), and myopathy (COL4A1). Gene Ontology analysis revealed significant for synaptic vesicle cycle pathways in PM (FDR <0.05). These findings advance our understanding of IIM pathogenesis from a genetic perspective and highlight candidate regulatory variants for further mechanistic investigation. - Source: PubMed
Publication date: 2026/07/24
Che Weng IanJarvis James NSysojev Anton ÖbergZhu CatherinePatasova Karina Smedby Karin ELundberg Ingrid EWesterlind HelgaLamb Janine AHolmqvist Marie - Mucopolysaccharidosis type I (MPS-I) is a rare, multisystemic lysosomal storage disease (LSD) caused by mutations in the IDUA gene, which encodes the enzyme alpha-L-iduronidase. Current treatments include hematopoietic stem cell transplantation and enzyme replacement therapy (ERT), administered via weekly intravenous infusions. ERT is of limited efficacy owing to its inability to reach critical tissues such as the brain and bone. To address these limitations, this study explores a novel method to improve drug delivery to target organs and simplify administration: oral administration of enzyme encapsulated within nanostructured lipid carriers (NLC). Encapsulation of ERT within NLC enabled effective oral administration. In vitro analysis showed that our NLC formulation was as effective as intravenous ERT in correcting enzyme activity and reducing glycosaminoglycan (GAG) accumulation in fibroblasts from MPS-I patients, when administered periodically. Permeability studies confirmed passage across the intestinal barrier. Proteomic analyses demonstrated normalization of protein expression in energetic pathways related to hexose metabolism, and significant improvements in protein dysregulation in the cytoskeleton, cellular trafficking, lysosomal function, GAG biosynthesis and degradation, and the extracellular matrix. Furthermore, in vivo studies in MPS-I knockout (KO) mice demonstrated biodistribution of NLC-encapsulated enzymes to all tissues affected by the disease, including passage across the blood-brain barrier and access to poorly vascularized bone. These findings suggest that oral administration of ERT via NLC encapsulation represents a significant advancement in MPS-I treatment, enabling drug delivery to previously inaccessible areas. This study opens important avenues of research for future therapeutic strategies targeting LSDs. - Source: PubMed
Publication date: 2026/06/20
Álvarez Jose-VictorLis-Lopez LluisRodrigues DanielPena CarmenBravo Susana-BelénDíaz-Tomé VictoriaRodríguez Selene CuelloLópez-Valverde LauraRodiño-Janeiro Bruno-KotskaColón CristóbalLuzardo-Álvarez Asteriade Castro Maria-JoseOtero-Espinar Francisco-JavierCouce Maria-Luz - The purpose of this project was to identify novel Usher syndrome (USH) candidate genes from phenotyping data of 9139 knockout (KO) mouse lines. - Source: PubMed
Publication date: 2026/06/18
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