Targeted Analysis Reveals Alteration in Pathways in 5p minus Patients
Metabolomics profile was evaluated in patients with cri du chat syndrome (CDCS) to help unravel the biochemical changes that occur in this disease, which is characterized by a deletion located on the chromosome 5 short (-p) . Urine samples were collected from people of both sexes aged 1–38 years old; 36 samples were collected and analysed by ultra-performance liquid chromatography coupled to mass spectrometry. Analyses were processed by ultra-performance liquid chromatography (Waters ACQUITY UPLC system) coupled to a triple quadrupole mass spectrometer (Waters Xevo TQ-MS with ESI source), a Waters ACQUITY UPLC BEH C18 column (1.7 µm 2.1 × 75 mm; no. 186 005 604) and a Waters ACQUITY BEH C18 VANGUARD pre-column (1.7 µm; no. 186003975). Analyses were performed by Waters Technologies (Brazil). The column was maintained at 50 °C and sampled at 4 °C, and the gradient mobile phase conditions were composed of phases A, water with 0.2% formic acid, and B, acetonitrile with 0.2% formic acid. The gradient ranged from 0% Phase B for 0.25 min, 80% B for 3.75 min and 60% B for 3.95 min to 0% B until 5.00 min. The flow rate was 0.900 mL min, and 5 µL of each sample was injected for analysis. The scanning time was 5.0 min. Legend: C= control group, P= patient group.