Targeted analysis reveals alteration in pathway in 5p minus individuals

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: BIOMEDICAL CHROMATOGRAPHY; v. 34, n. 1 JAN 2020.
• Web of Science Citations: 0

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. (AU)

• FAPESP's process: 18/02385-0 - Correlation between the Metabolic, Lipidomic and Proteomic Profiles and the 5p Deletion Size of Cri-Du-Chat Syndrome Patients
• Grantee: Nilson Antonio de Assunção
• Support Opportunities: Regular Research Grants
• FAPESP's process: 12/02514-9 - Use of proteomics techniques to study radical acetylation of proteins triggered by products of the reaction biacetyl/peroxinitrite
• Grantee: Nilson Antonio de Assunção
• Support Opportunities: Regular Research Grants
• FAPESP's process: 13/21455-6 - Applied study will bioanalytical search profile blood plasma amino acid carriers Syndrome Cri-Du-Chat
• Grantee: Danielle Zildeana Sousa Furtado
• Support Opportunities: Scholarships in Brazil - Master