Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients

Author(s)

Sousa Furtado, Danielle Zildeana ; Vilela de Moura Leite, Fernando Brunale ; Barreto, Cleber Nunes ; Faria, Bernadete ; Lima Jedlicka, Leticia Dias ; Silva, Elisangela de Jesus ; Torres da Silva, Heron Dominguez ; Henriques Bechara, Etelvino Jose ; Assuncao, Nilson Antonio

• Document type: Journal article
• Source: Journal of Pharmaceutical and Biomedical Analysis; v. 140, p. 137-145, JUN 5 2017.
• Web of Science Citations: 5

Abstract

Cri-du-chat syndrome (CDCS) is a rare innate disease attributed to chromosome 5p deletion characterized by a cat-like cry, craniofacial malformation, and altered behavior of affected children. Metabolomic analysis and a chemometric approach allow description of the metabolic profile of CDCS as compared to normal subjects. In the present work, UHPLC/MS was employed to analyze blood samples withdrawn from CDCS carriers (n =18) and normal parental subjects (n = 18), all aged 0-34 years, aiming to set up a representative CDCS profile constructed from 33 targeted amino acids and biogenic amines. Methionine sulfoxide (MetO) was of particular concern with respect to CDCS redox balance. Increased serotonin (3 fold), methionine sulfoxide (2-fold), and Asp levels, and a little lower Orn, citrulline, Leu, Val, Ile, Asn, Gln, Trp, Thr, His, Phe, Met, and creatinine levels were found in the plasma of CDCS patients. Nitrotyrosine and Trp did not differ in normal and CDCS individuals.The accumulated metabolites may reflect, respectively, disturbances in the redox balance, deficient purine biosynthesis, and altered behavior, whereas the amino acid abatement in the latter group may affect the homeostasis of the urea cycle, citric acid cycle, branched chain amino acid synthesis, Tyr and Trp metabolism and amino acid biosynthesis. The identification of enzymatic deficiencies leading to the amino acid burden in CDCS is further required for elucidating its molecular bases and eventually propose specific or mixed amino acid supplementation to newborn patients aiming to balance their metabolism. (C) 2017 Elsevier B.V. All rights reserved. (AU)

• FAPESP's process: 13/07763-0 - Studies of Radical Acetylation of Proteins Using Proteomics Tools
• Grantee: Leticia Dias Lima Jedlicka
• Support Opportunities: Scholarships in Brazil - Doctorate
• 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
• 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