Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1

• DOI: 10.1021/acs.jproteome.2c00068
• Publication Date: 2022-03-29T19:58:31Z
• Authors: Iskren Menkovic; Michel Boutin; Abdulfatah Alayoubi; Filipa Curado; Peter Bauer; François E. Mercier; Christiane Auray-...
• Keywords: Sphingolipid; Biomarker Discovery; Metabolome; Catabolism

Gaucher disease (GD) is a lysosomal storage disorder resulting from biallelic mutation in the gene GBA1, leading to deficiencies enzyme β-glucocerebrosidase (Gcase). Inabilities of Gcase catabolize its substrate result accumulation sphingolipids macrophages, which impairs cell functions and ultimately leads multisystemic clinical manifestations. Important variability symptoms manifestations may lead challenging diagnosis patient care. Plasma glucosylsphingosine (lyso-Gb1) biomarker frequently used for prognosis, monitoring, follow-up. While lyso-Gb1 appears be valid biomarker, few studies have investigated other matrices potential GD biomarkers. The main objective this study was investigate urine matrix as source new biomarkers by performing metabolomic using time-of-flight mass spectrometry. Our highlighted significant increase eight urinary analogues. Moreover, novel class biomarkers, named polycyclic analogues, identified. These four molecules were more elevated than related analogues specimens patients. Further investigations are warranted validate efficiency these newly found on larger cohort patients compare them with plasma currently quantified laboratories.