Targeted Analysis Reveals Alteration in Pathways in 5p minus Patients

Published: 29-08-2017| Version 2 | DOI: 10.17632/9wpdrpsw28.2
Nilson Antonio Assuncao,
Danielle Furtado,
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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.