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Targeted analysis reveals alteration in pathway in 5p minus individuals |
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| Authors: | Danielle Zildeana Sousa Furtado Fernando Brunale Vilela de Moura Leite Leticia Dias Lima Jedlicka Danilo Santos Souza Cleber Nunes Barreto Heron Dominguez Torres da Silva Nilson Antonio Assunção |
| Affiliation: | 1. Laboratório de Radicais Livres em Sistemas Biológicos e Bioanalítica, Instituto de Ciências Ambientais, Químicas e Farmacêuticas, Universidade Federal de São Paulo, Brazil;2. Laboratório de Radicais Livres em Sistemas Biológicos e Bioanalítica, Instituto de Ciências Ambientais, Químicas e Farmacêuticas, Universidade Federal de São Paulo, Brazil Instituto de Estudos em Saúde e Biológicas, Saúde Coletiva, Universidade Federal do Sul e Sudeste do Pará, Brazil;3. Laboratório de Radicais Livres em Sistemas Biológicos e Bioanalítica, Instituto de Ciências Ambientais, Químicas e Farmacêuticas, Universidade Federal de São Paulo, Brazil Núcleo de Graduação em Agroindústria, Universidade Federal de Sergipe, Brazil |
| Abstract: | 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. |
| Keywords: | Cri du Chat Syndrome metabolism metabolites pathways |