| Full text | |
| Author(s): |
Araujo, Bruno Rafael
[1, 2]
;
Sousa Furtado, Danielle Zildeana
[3]
;
Vilela de Moura Leite, Fernando Brunale
[3]
;
de Assuncao, Nilson Antonio
[4, 3]
;
Carrilho, Emanuel
[1, 2]
Total Authors: 5
|
| Affiliation: | [1] Univ Sao Paulo, Inst Quim Sao Carlos, BR-13566590 Sao Carlos, SP - Brazil
[2] Inst Ciencia & Tecnol Bioanalit INCTBio, BR-13083590 Campinas, SP - Brazil
[3] Univ Fed Sao Paulo, Escola Paulista Med, BR-04039032 Sao Paulo, SP - Brazil
[4] Univ Fed Sao Paulo, Inst Ciencias Ambientais Quim & Farmaceut, BR-09972270 Diadema, SP - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES; v. 1153, SEP 15 2020. |
| Web of Science Citations: | 0 |
| Abstract | |
Cri Du Chat (CDC) syndrome is a rare genetic condition caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. A high-pitched cry that sounds like that of a cat, dysmorphic characteristics, and cytogenetic methods are often used for diagnosing the syndrome. In this study, we applied GC-MS analysis for determining organic acids in urine from 17 control volunteers without CDC syndrome, and from 16 in-dividuals with the CDC syndrome in order to determine the profile of organic acids and biochemical pathways alterations resulting from this genetic condition. First, performing multivariate data analysis selected the best method for extracting organic acids with greater signal intensities and good reproducibility. After selection, multivariate (PLS-DA) and univariate (Mann-Whitney test) data analysis discriminated the metabolites re-sponsible for separation between groups. Nine organic acid metabolites had values of VIP >= 1.0 and p-va-lues <= 0.05, with highest intensities in the samples from CDC individuals, indicating the strongest discriminative power (tricarballylic acid, indoleacetic acid, anthranilic acid, 4-hydroxyphenylacetic acid, 4-hydroxybenzoic acid, 4-hydroxyhippuric acid, pantothenic acid, homovanillic acid, and vanillylmandelic acid). These metabo-lites are involved in several biochemical pathways like in the tyrosine and phenylalanine metabolism, as well as the tryptophan metabolism, which could be associated (i) to some neuropsychiatric alterations commonly ob-served in CDC individuals, (ii) to exogenous compounds related to transformation products by intestinal mi-crobial, and (iii) to a possible deficiency in enzyme activity due to the syndrome. (AU) | |
| FAPESP's process: | 14/50867-3 - INCT 2014: National Institute of Science and Technology in Bioanalysis |
| Grantee: | Marco Aurelio Zezzi Arruda |
| Support Opportunities: | Research Projects - Thematic Grants |
| 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 |