Applied study will bioanalytical search profile blood plasma amino acid carriers Syndrome Cri-Du-Chat

• Grant number: 13/21455-6
• Support Opportunities: Scholarships in Brazil - Master
• Start date: April 01, 2014
• End date: July 31, 2015
• Field of knowledge: Biological Sciences - Biochemistry - Metabolism and Bioenergetics
• Principal Investigator: Nilson Antonio de Assunção
• Grantee: Danielle Zildeana Sousa Furtado
• Host Institution: Instituto de Ciências Ambientais, Químicas e Farmacêuticas (ICAQF). Universidade Federal de São Paulo (UNIFESP). Campus Diadema. Diadema , SP, Brazil
• Associated research grant: 12/50191-4 - Synthesis, kinetic studies and applications of substrates and inhibitors for proteolytic enzymes, AP.TEM

Abstract

The Cri-Du-Chat Syndrome is a rare disease, characterized by cry like meow cat, mental retardation, microcephaly, ocular hypertelorism, hypotonia, palpebral antimongoloid resulting from deletion in a particular region of chromosome 5. The main of this project is to analyze the amino acid plasma profile of patients with Cri-Du-Chat Syndrome (SCDC), and compare with individuals do not carry this disease. There are little information in literature about this syndrome, mainly combining metabolomics analysis of carriers and non- carriers of the same family, in propose to elucidate of the problems of diseases and biological processes. We will initiate this studies aiming to relate the data obtained through analysis of metabolites derived by plasma of patients with Cri-Du-Chat Syndrome. This crusade prospecting increase the probability to detect specific disorders in amino acids, having this information is possible to follow the evolution of disease and discover their molecular mechanisms and the therapeutic treatment by drugs or simply with adequate food. The groups will be divided as follows: i) patients with Cri-Du-Chat Syndrome (SCDC); ii) individual do not carry Cri-Du-Chat syndrome. The samples will be collected using filter paper (dried blood spot) and derivatization of amino acids will be held fluorescein isothiocyanate. The separation, identification and quantification, the amino acids will be analyzed by electrophoresis capillary with laser-induced detection. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

FIGUEIREDO LEITE, GIUSEPPE GIANINI; AZEVEDO, HATYLAS; DE OLIVEIRA, TALITA MENDES; SOUSA FURTADO, DANIELLE ZILDEANA; ASSUNCAO, NILSON ANTONIO. Cri-du-Chat Syndrome interactome network: Correlating genotypic variations to associated phenotypes. GENE REPORTS, v. 11, p. 179-187, JUN 2018. (13/21455-6, 12/02514-9)

FURTADO, DANIELLE ZILDEANA SOUSA; LEITE, FERNANDO BRUNALE VILELA DE MOURA; JEDLICKA, LETICIA DIAS LIMA; SOUZA, DANILO SANTOS; BARRETO, CLEBER NUNES; DA SILVA, HERON DOMINGUEZ TORRES; ASSUNCAO, NILSON ANTONIO. Targeted analysis reveals alteration in pathway in 5p minus individuals. BIOMEDICAL CHROMATOGRAPHY, v. 34, n. 1, JAN 2020. (18/02385-0, 12/02514-9, 13/21455-6)

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. Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients. Journal of Pharmaceutical and Biomedical Analysis, v. 140, p. 137-145, JUN 5 2017. (13/07763-0, 13/21455-6, 12/02514-9)