Targeted analysis reveals alteration in pathway in 5p minus individuals

Autor(es)

Furtado, Danielle Zildeana Sousa ^[1] ; Leite, Fernando Brunale Vilela de Moura ^[1] ; Jedlicka, Leticia Dias Lima ^{[1, 2]} ; Souza, Danilo Santos ^{[1, 3]} ; Barreto, Cleber Nunes ^[1] ; da Silva, Heron Dominguez Torres ^[1] ; Assuncao, Nilson Antonio ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Lab Radicais Livres Sistemas Biol & Bioanalit, Inst Ciencias Ambientais Quim & Farmaceut, Sao Paulo, SP - Brazil

^[2] Univ Fed Sul & Sudeste Para, Inst Estudos Saude & Biol Saude Colet, Maraba, Para - Brazil

^[3] Univ Fed Sergipe, Nucleo Grad Agroind, Sao Cristovao, SE - Brazil

• Tipo de documento: Artigo Científico
• Fonte: BIOMEDICAL CHROMATOGRAPHY; v. 34, n. 1 JAN 2020.
• Citações Web of Science: 0

Resumo

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. (AU)

• Processo FAPESP: 18/02385-0 - Correlação entre os Perfis Metabolômico, Lipidômico e Proteômico e o Tamanho da Deleção 5p de Portadores da Síndrome de Cri-Du-Chat
• Beneficiário: Nilson Antonio de Assunção
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 12/02514-9 - Uso de técnicas proteômicas para o estudo da acetilação de proteínas via radicalar desencadeada pelos produtos da reação diacetil/peroxinitrito
• Beneficiário: Nilson Antonio de Assunção
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 13/21455-6 - Estudo bioanalítico aplicado á busca do perfil dos aminoácidos do plasma sanguíneo de portadores da Síndrome Cri-Du-Chat
• Beneficiário: Danielle Zildeana Sousa Furtado
• Modalidade de apoio: Bolsas no Brasil - Mestrado