Correlation between the Metabolic, Lipidomic and Proteomic Profiles and the 5p Deletion Size of Cri-Du-Chat Syndrome Patients

• Grant number: 18/02385-0
• Support type: Regular Research Grants
• Duration: May 01, 2018 - April 30, 2020
• Field of knowledge: Physical Sciences and Mathematics - Chemistry - Analytical Chemistry
• Principal researcher: Nilson Antonio de Assunção
• Grantee: Nilson Antonio de Assunção
• Home Institution: Instituto de Ciências Ambientais, Químicas e Farmacêuticas (ICAQF). Universidade Federal de São Paulo (UNIFESP). Campus Diadema. Diadema , SP, Brazil
• Assoc. researchers: Érica Aparecida Souza Silva ; Heron Dominguez Torres da Silva ; Tiago Venancio
• Associated scholarship(s): 18/07868-0 - Correlation between the metabolic, lipidomic and proteomic profiles and the 5p deletion size of Cri-Du-Chat Syndrome patients, BP.TT

Abstract

Cri-du-chat syndrome (SCDC) (OMIM # 123450) is a rare genetic disease in which there is a deletion of a part of the short arm of chromosome 5. It is estimated that this syndrome affects from 1 / 15,000 to 1 /50,000 children born in the world. One of the main characteristic is that all births present microcephaly. Another is a large incidence, double the population cardiac problems. The objective of this study was to evaluate the proteomic, metabolomic and lipid profile of plasma and urine samples from patients with Cri-du-chat syndrome and to compare the profile of healthy individuals (family members). Another goal is to assess SCDC sufferers who have heart problems and those who do not have the problem. This information will establish a relation between the size of the deletion in chromosomes 5, "omicas" of the patients as well as the differences of the functional "omic" profile, seeking a correlation between these parameters. Blood and urine samples from patients with clinical diagnosis of SCDC will be obtained after the signing of the Informed Consent Form duly approved by the ethics committee of UNIFESP. Determination of the extent of deletions and better establishment of unbalanced gene content will be performed by array-CGH (array based on comparative genomic hybridization). For the proteomic analysis, the samples will be treated, and then analyzed by an ESI-nanoLC / MS / MS. Thus, we will seek a deeper understanding of the pathological process (proteomic / genetic / intellectual deficiency), which may lead to biomarkers that may be useful in diagnosis / prognosis, thus improving treatment through new therapeutic approaches. (AU)

Scientific publications

(5)

(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)

ARAUJO, BRUNO RAFAEL; SOUSA FURTADO, DANIELLE ZILDEANA; VILELA DE MOURA LEITE, FERNANDO BRUNALE; DE ASSUNCAO, NILSON ANTONIO; CARRILHO, EMANUEL. Metabolic profiling of organic acids in urine samples of Cri Du Chat syndrome individuals by gas chromatography-mass spectrometry. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, v. 1153, SEP 15 2020. Web of Science Citations: 0.

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. Web of Science Citations: 0.

BRENO SENA DE SAN-MARTIN; VINÍCIUS GUIMARÃES FERREIRA; MARIANA RECHIA BITENCOURT; PAULO CESAR GONÇALVES PEREIRA; EMANUEL CARRILHO; NILSON ANTÔNIO DE ASSUNÇÃO; LUCIANI RENATA SILVEIRA DE CARVALHO. Metabolomics as a potential tool for the diagnosis of growth hormone deficiency (GHD): a review. ARCHIVES OF ENDOCRINOLOGY METABOLISM, n. ahead, p. -, 2020.

BRENO SENA DE SAN-MARTIN; VINÍCIUS GUIMARÃES FERREIRA; MARIANA RECHIA BITENCOURT; PAULO CESAR GONÇALVES PEREIRA; EMANUEL CARRILHO; NILSON ANTÔNIO DE ASSUNÇÃO; LUCIANI RENATA SILVEIRA DE CARVALHO. Metabolomics as a potential tool for the diagnosis of growth hormone deficiency (GHD): a review. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 64, n. 6, p. 654-663, Dez. 2020. Web of Science Citations: 0.

LIMA JEDLICKA, LETICIA DIAS; SILVA, JUCIARA DA COSTA; BALBINO, ALEKSANDRO MARTINS; NETO, GIUSEPPE BRUNO; SOUSA FURTADO, DANIELLE ZILDEANA; TORRES DA SILVA, HERON DOMINGUEZ; CORREIA CAVALCANTI, FERNANDADE BARROS; VAN DER HEIJDEN, KARIN MARIE; AVELLANEDA PENATTI, CARLOS ALBERTO; HENRIQUES BECHARA, ETELVINO JOSE; ASSUNCAO, NILSON ANTONIO. Effects of Diacetyl Flavoring Exposure in Mice Metabolism. BIOMED RESEARCH INTERNATIONAL, 2018. Web of Science Citations: 2.