دورية أكاديمية
LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population.
| العنوان: | LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population. |
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| المؤلفون: | Irún P; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto de Salud Carlos III (ISCIII), Zaragoza, Spain.; Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain., Cebolla JJ; Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.; Departamento de Bioquímica, Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Zaragoza, Spain.; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain., López de Frutos L; Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain., De Castro-Orós I; Departamento de Bioquímica, Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Zaragoza, Spain., Roca-Espiau M; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain.; Centro de Diagnóstico por Imagen Dra Roca, Zaragoza, Spain., Giraldo P; Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain. |
| المصدر: | Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2020 Apr 28; Vol. 58 (5), pp. 798-809. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Print Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin Chem Lab Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Berlin ; New York : Walter De Gruyter, c1998- |
| مواضيع طبية MeSH: | Biomarkers/*blood , Chromatography, High Pressure Liquid/*methods , Gaucher Disease/*diagnosis , Psychosine/*analogs & derivatives , Tandem Mass Spectrometry/*methods, Adolescent ; Adult ; Aged ; Case-Control Studies ; Chemokine CCL18/blood ; Child ; Child, Preschool ; Female ; Gaucher Disease/genetics ; Genotype ; Hexosaminidases/genetics ; Humans ; Infant ; Male ; Middle Aged ; Psychosine/blood ; Psychosine/isolation & purification ; Retrospective Studies ; Spain ; Young Adult |
| مستخلص: | Background Gaucher disease (GD), caused by a deficiency in acid β-glucosidase, leads to the accumulation of glucosylsphingosine (GluSph), which has been used as a powerful biomarker for the diagnosis and follow-up of GD. Our aim was to perform the first retrospective study of GluSph in Spanish patients, analyzing its relationship with classical biomarkers and other parameters of disease and its utility regarding treatment monitoring. Methods Classical biomarkers were evaluated retrospectively by standard methods in a total of 145 subjects, including 47 GD patients, carriers, healthy controls and patients suffering from other lysosomal lipidoses. GluSph was also measured using a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method developed as part of the present study. Results The optimized method presented intra- and inter-assay variations of 3.1 and 11.5%, respectively, overall recovery higher than 96% and linearity up to plasma concentrations of 1000 ng/mL with 100% specificity and sensitivity. Only GD patients displayed GluSph levels above 5.4 ng/mL at diagnosis and this was significantly correlated with the classical biomarkers chitotriosidase (r = 0.560) and the chemokine CCL18/PARC (CCL18/PARC) (ρ = 0.515), as well as with the Spanish magnetic resonance imaging index (S-MRI, r = 0.364), whereas chitotriosidase correlated with liver volume (r = 0.372) and CCL18/PARC increased in patients with bone manifestations (p = 0.005). GluSph levels decreased with treatment in naïve patients. Conclusions Plasma GluSph is the most disease-specific biomarker for GD with demonstrated diagnostic value and responsiveness to therapy. GluSph in the present series of patients failed to demonstrate better correlations with clinical characteristics at onset than classical biomarkers. |
| فهرسة مساهمة: | Keywords: CCL18/PARC; CHIT1; Gaucher disease; chitotriosidase; enzyme replacement therapy; glucosylsphingosine; substrate reduction therapy |
| المشرفين على المادة: | 0 (Biomarkers) 0 (Chemokine CCL18) 2238-90-6 (Psychosine) 52050-17-6 (sphingosyl beta-glucoside) EC 3.2.1.- (Hexosaminidases) EC 3.2.1.- (chitotriosidase) |
| تواريخ الأحداث: | Date Created: 20200304 Date Completed: 20210520 Latest Revision: 20210520 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1515/cclm-2019-0949 |
| PMID: | 32126008 |
| قاعدة البيانات: | MEDLINE |
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