دورية أكاديمية
أعرض في EDS

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.

التفاصيل البيبلوغرافية
العنوان: Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.
المؤلفون: Dubiela P; Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland.; Department of Pathophysiology and Allergy Research, Medical University of Vienna, 1090 Vienna, Austria., Szymanska-Rozek P; Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 00-927 Warsaw, Poland., Hasinski P; Department of Internal Medicine and Gastroenterology, Municipal Hospital, 43-100 Tychy, Poland., Lipinski P; Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, 00-136 Warsaw, Poland., Kleinotiene G; Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania., Giersz D; Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland., Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.
المصدر: Biomolecules [Biomolecules] 2024 Jul 12; Vol. 14 (7). Date of Electronic Publication: 2024 Jul 12.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI, 2011-
مواضيع طبية MeSH: Gaucher Disease*/drug therapy , Enzyme Replacement Therapy* , Glucosylceramidase*/genetics , Glucosylceramidase*/therapeutic use, Humans ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Young Adult ; Biomarkers/blood ; Child ; Psychosine/metabolism ; Psychosine/analogs & derivatives ; Aged ; Child, Preschool
مستخلص: Background : Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the GBA1 gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. Methods : We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing enzyme replacement therapy (ERT). Results : Eight-years analysis of lyso-Gb1 revealed statistically insignificant variability in the biomarker across the years and relatively high individual variability in patients' results. GD type 1 (GD1) patients exhibited higher variability compared to GD type 3 (GD3) patients (coefficients of variation: 34% and 23%, respectively; p -value = 0.0003). We also investigated the short-term response of the biomarker to enzyme replacement therapy (ERT), measuring lyso-Gb1 right before and 30 min after treatment administration. We tested 20 GD patients (16 GD1, 4 GD3) and observed a rapid and significant reduction in lyso-Gb1 levels (average decrease of 17%; p -value < 0.0001). This immediate response reaffirms the efficacy of ERT in reducing substrate accumulation in GD patients but, on the other hand, suggests the biomarker's instability between the infusions. Conclusions : These findings underscore lyso-Gb1's potential as a reliable biomarker for monitoring efficacy of treatment. However, individual variability and dry blood spot (DBS) testing limitations urge a further refinement in clinical application. Our study contributes valuable insights into GD patient management, emphasizing the evolving role of biomarkers in personalized medicine.
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معلومات مُعتمدة: 2021/ABM/02-00014-00 The Children's Memorial Health Institute and Medical Research Agency
فهرسة مساهمة: Keywords: Gaucher disease; biomarker; enzyme replacement therapy; glucosylsphingosine; lyso-Gb1
المشرفين على المادة: EC 3.2.1.45 (Glucosylceramidase)
0 (Biomarkers)
2238-90-6 (Psychosine)
تواريخ الأحداث: Date Created: 20240727 Date Completed: 20240728 Latest Revision: 20240729
رمز التحديث: 20240729
مُعرف محوري في PubMed: PMC11275231
DOI: 10.3390/biom14070842
PMID: 39062556
قاعدة البيانات: MEDLINE
الوصف
تدمد:2218-273X
DOI:10.3390/biom14070842