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Targeted analysis reveals alteration in pathway in 5p minus individuals
Author(s) -
Furtado Danielle Zildeana Sousa,
Leite Fernando Brunale Vilela de Moura,
Jedlicka Leticia Dias Lima,
Souza Danilo Santos,
Barreto Cleber Nunes,
Silva Heron Dominguez Torres,
Assunção Nilson Antonio
Publication year - 2020
Publication title -
biomedical chromatography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 65
eISSN - 1099-0801
pISSN - 0269-3879
DOI - 10.1002/bmc.4673
Subject(s) - metabolomics , metabolite , chemistry , catabolism , metabolome , urine , metabolic pathway , glycolysis , chromatography , metabolism , biochemistry
Cri du Chat or 5p minus (5p−) syndrome is characterized by a deletion located on the chromosome 5 short (−p) arm and has an incidence rate of 1 in 50,000 individuals worldwide. This disease manifests in disturbances across a range of systems biochemicals. Therefore, a targeted metabolomics analysis was evaluated in patients with 5p− syndrome to help unravel the biochemical changes that occur in this disease. Urine samples were collected from people of both sexes aged 1–38 years old and analyzed by ultra‐performance liquid chromatography coupled to mass spectrometry. Student' statistical test, metabolomic pathway analysis and metabolite set enrichment analysis were applied to the data. Alterations of some amino acids and amine biogenics levels were found in Cri du Chat Syndrome individuals. The alteration of most of these metabolites is associated with energy recuperation and glycolysis. In general, we found the catabolism of some metabolic pathways to be affected in 5p− patients.