Identification of patients with metabolic defect in coenzyme Q10

• Grant number: 10/51924-0
• Support Opportunities: Regular Research Grants
• Start date: March 01, 2011
• End date: February 28, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Claudia Cristina Ferreiro de Barros
• Grantee: Claudia Cristina Ferreiro de Barros
• Host Institution: Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE). Sociedade Beneficente Israelita Brasileira Albert Einstein (SBIBAE). São Paulo , SP, Brazil

Abstract

Mitochondrial disorders are highly heterogeneous diseases due to mitochondrial DNA(mtDNA) or nuclear DNA(nDNA) mutations that cause defects of oxidative phosphorylation. These disorders are generally multisystemic and affect highly aerobic post-mitotic tissues, such as muscle and nerve. However, in brazilian hospitals they are generically classified as "respiratory chain defects". In this project we plan to identify patients with early ataxia, harboring coenzyme Q dysfunction. Recently, patients unable to synthesize Coenzyme Q have been identified shedding light in this area of study. CoQ10 patients are of particular interests because of the possible chances of treatment by CoQ10 exogenous administration. Most of our current knowledge about the synthesis of CoQ10 came from studies in Saccharomyces cerevisiae, because of the conserved function of CoQ proteins pathogenic studies in yeast has been performed and we will include this studies here. Finally, the systematization of biochemical trials for respiratory chain defects in our laboratory will allow the identification all class of mitochondrial disorders, which may lead to new projects and collaborations with other researchers. (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)

ARITA, JULIANA HARUMI; BARROS, MARIO H.; RAVAGNANI, FELIPE GUSTAVO; ZIOSI, MARCELLO; SANCHES, LIVIA RENTAS; PICOSSE, FABIOLA ROSA; LOPES, TANIA OLIVEIRA; AGUIAR, PATRICIA DE CARVALHO; MACABELLI, CAROLINA HABERMANN; CHIARATTI, MARCOS R.; et al. Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, v. 1864, n. 5, p. 8-pg., 2018-05-01. (10/51924-0, 13/07937-8, 11/07366-5, 15/23549-3)

ARITA, JULIANA HARUMI; BARROS, MARIO H.; RAVAGNANI, FELIPE GUSTAVO; ZIOSI, MARCELLO; SANCHES, LIVIA RENTAS; PICOSSE, FABIOLA ROSA; LOPES, TANIA OLIVEIRA; AGUIAR, PATRICIA DE CARVALHO; MACABELLI, CAROLINA HABERMANN; CHIARATTI, MARCOS R.; et al. Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, v. 1864, n. 5, A, p. 1896-1903, MAY 2018. (15/23549-3, 13/07937-8, 10/51924-0, 11/07366-5)

FERREIRO-BARROS, CLAUDIA CRISTINA; SUGAWARA, EDUARDO KINIO; SANCHES, LIVIA RENTAS. Determination of a method for extraction of coenzyme Q(10) in human plasma: optimization of the use of surfactants and other variables. Einstein (São Paulo), v. 10, n. 2, p. 6-pg., 2012-04-01. (10/51924-0)