Gene expression in peripheral blood cells from Friedreich ataxia patients

• Grant number: 12/17494-3
• Support Opportunities: Regular Research Grants
• Start date: December 01, 2012
• End date: November 30, 2014
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Orlando Graziani Povoas Barsottini
• Grantee: Orlando Graziani Povoas Barsottini
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Associated researchers: Agessandro Abrahão Júnior ; José Luiz Pedroso ; Patrícia Maria de Carvalho Aguiar

Abstract

Friedreich Ataxia (FRDA) is the most common autosomal recessive ataxia worldwide, with central and peripheral nervous system involvement. Myocardiopathy, glycemic metabolism disturbances, and skeletal changes are also features of FRDA clinical spectrum. The disease results from mutations in FXN gene, and loss of function of frataxin protein. Frataxin is expressed in several tissues and interacts with iron-sulfur cluster protein. This biomechanical issue plays a crucial role in iron and heme metabolism. The whole biologic function of frataxin is still misunderstood. Microarray based studies in animal model and human cells have shown down regulation of FXN and modulation of different genes related to intracellular transport, apoptosis, amino acid and iron metabolism, DNA package, and inflammatory process.There are not enough data to support that up regulation or down regulation of these genes might be validated in other FRDA cohorts. Furthermore, there is no clear evidence that expression of a human homologue is the same as indicated by an animal study. The aim of this pilot study is to evaluate FXN gene expression and validate genes listed in microarray studies in peripheral blood cells of FRDA patients, compared to healthy subjects, using real-time polymerase chain reaction (RT-PCR) method. (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)

ABRAHAO, AGESSANDRO; PEDROSO, JOSE LUIZ; DE CARVALHO AGUIAR, PATRICIA MARIA; POVOAS BARSOTTINI, ORLANDO GRAZIANI. Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients. CEREBELLUM, v. 15, n. 3, SI, p. 306-313, JUN 2016. (12/17494-3)

ABRAHAO, AGESSANDRO; PEDROSO, JOSE LUIZ; BRAGA-NETO, PEDRO; BOR-SENG-SHU, EDSON; AGUIAR, PATRICIA DE CARVALHO; POVOAS BARSOTTINI, ORLANDO GRAZIANI. Milestones in Friedreich ataxia: more than a century and still learning. NEUROGENETICS, v. 16, n. 3, p. 151-160, JUL 2015. (12/17494-3)

ABRAHAO, AGESSANDRO; PEDROSO, JOSE LUIZ; DE CARVALHO AGUIAR, PATRICIA MARIA; POVOAS BARSOTTINI, ORLANDO GRAZIANI. Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients. CEREBELLUM, v. 15, n. 3, p. 8-pg., 2016-06-01. (12/17494-3)