GBA1-Associated Parkinson’s Disease Is a Distinct Entity

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(13), P. 7102 - 7102

Published: June 28, 2024

-associated Parkinson's disease (

Language: Английский

---

Systematic Localization Analysis of Dystroglycan Modifying Enzymes Indicates Completion of Matriglycan Modification in the cis-/medial-Golgi

Published: Jan. 1, 2025

Language: Английский

---

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study

Journal of Personalized Medicine, Journal Year: 2025, Volume and Issue: 15(3), P. 109 - 109

Published: March 12, 2025

Background: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, leading to deficient β-glucocerebrosidase activity. This results accumulation of glucocerebroside macrophages, primarily affecting liver, spleen, bone marrow, and bones. Understanding clinical outcomes genetic mutation profiles specific populations, such as Turkish patients, essential for optimized management personalized therapy preventing morbidity mortality. Method: retrospective study analyzed data from 29 patients with previously diagnosed type 1 GD at single center between September December 2023. Genetic analyses were performed identify using next-generation sequencing. primary criterion diagnosing GD. Clinical features, treatment responses, evaluated. parameters included hematological findings, organomegaly, involvement. Data potential correlations manifestations. Results: 14 male 15 female mean diagnosis age 22.1 years. A significant family history was observed 93% cases, 52% had consanguineous parents. Epistaxis (72%) most common pre-diagnosis symptom. Most received enzyme replacement 60 units/kg. Treatment led improvements, including increased hemoglobin (21.1%), higher platelet count (86.1%), reduced organomegaly (liver (10.02%), spleen (25.22%)). analysis identified seven mutations, c.1226A>G (p.N409S) being frequent. Conclusions: highlights spectrum GD, emphasizing variability severity based on genotype. should be considered unexplained nosebleeds, hepatosplenomegaly, pain, weakness, or siblings other members similar symptoms. The revealed considerable heterogeneity among which indicates necessity observing this development strategies. Future studies larger cohorts long-term follow-up are needed further elucidate genotype–phenotype population.

Language: Английский

---

RNA-based therapies for neurodegenerative disease: Targeting molecular mechanisms for disease modification

Molecular and Cellular Neuroscience, Journal Year: 2025, Volume and Issue: unknown, P. 104010 - 104010

Published: May 1, 2025

Language: Английский

---

Gaucher Disease: Exploring the Genetic and Clinical Frontiers of a Multifaceted Condition

International Journal of Health Science, Journal Year: 2024, Volume and Issue: 4(76), P. 2 - 17

Published: Aug. 14, 2024

Gaucher disease (GD) is a rare and inherited condition that manifests mainly in childhood.It caused by the lack of enzyme glucocerebrosidase, resulting accumulation fat tissues, which causes osteopenia, hepatomegaly, splenomegaly, anemia, fatigue, thrombocytopenia bruising.GD divided into three types: type 1 most common chronic, presenting bone deformities enlarged organs; 2 rarer fatal up to two years age, with serious neurological problems; 3, turn, begins childhood includes bone, ocular symptoms, longer life expectancy than 2, allowing many patients live until adolescence or beyond.However, there still much be studied about GD, due several gaps understanding its mechanisms.The objective this systematic review gather analyze existing studies on disease, aiming expand knowledge updated in-depth information.To end, found National Library Medicine Virtual Health (PubMed/BVS) databases was conducted.Commentaries, editorials, conference reports, did not meet inclusion criteria were excluded: publication date after 2014, empirical data, old articles inaccessible full.In total, 12,322 and, applying filters, exclusion criteria, removing duplicate articles, 29 selected for review.The highlighted impact GD different organ systems, addressing body physiology hepatosplenic pathology related glucocerebrosidase deficiency, addition discussing aggravations, treatments, associated diseases.As science advances, it expected will become better known, more accurate diagnoses effective treatments.

Language: Английский

---

An Overview of Gaucher Disease

Diagnostics, Journal Year: 2024, Volume and Issue: 14(24), P. 2840 - 2840

Published: Dec. 17, 2024

Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to deficiency glucocerebrosidase gene. This results accumulation of glucocerebrosides macrophages, primarily affecting liver, spleen, and bone marrow. Focusing on Mexican population, this study aims review GD’s epidemiology, clinical manifestations, treatment options enhance early diagnosis optimize outcomes. Methods: comprehensive literature analyzing epidemiological data, presentations, current therapeutic approaches for disease, including enzyme replacement therapy (ERT) substrate reduction (SRT). Conclusions: Early individualized treatment, through therapy, significantly improve prognosis patients with particularly type 1. Continued research required neuropathic types better understand disease’s epidemiology Mexico. These efforts will contribute improved outcomes quality life patients.

Language: Английский

---

Current opinion on pluripotent stem cell technology in Gaucher's disease: challenges and future prospects

Cytotechnology, Journal Year: 2024, Volume and Issue: 77(1)

Published: Dec. 27, 2024

Language: Английский

---