Investigation of de novo mutations as a possible basis biological of multiple sclerosis

• Grant number: 13/24293-7
• Support Opportunities: Scholarships in Brazil - Master
• Start date: June 01, 2014
• End date: February 28, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: Emmanuel Dias-Neto
• Grantee: Sheila Garcia
• Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil

Abstract

Multiple Sclerosis (MS) is a chronic multifactorial inflammatory, demyelinating and degenerative disease that affects approximately 2.5 million adults/young-age people in the world and whose etiology is still poorly understood. The heterogeneity of the disease involves a combination of genetic and environmental factors that lead to its clinical diagnosis. Since individuals affected by MS have a low fertility rate, the theory of genetic heritability in its genesis becomes less likely. Recent genomic studies with neurodegenerative diseases reinforce the hypothesis that de novo mutations may contribute significantly to the characterization of the genetic components of these diseases. Thus, to identify genetic factors related to MS, we will analyze the profile of de novo mutations in 10 trios (father-mother-affected child) totaling 30 exomes, which will be sequenced by NGS (Next Generation Sequencing) platform Ion Proton (Life Technologies, Foster City, USA). This analysis may provide novel targets relevant to future applications in diagnosis and therapy of MS. (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)

GARCIA-ROSA, SHEILA; TRIVELLA, DANIELA B. B.; MARQUES, VANESSA D.; SERAFIM, RODOLFO B.; PEREIRA, JOSE G. C.; LORENZI, JULIO C. C.; MOLFETTA, GREICE A.; CHRISTO, PAULO P.; OLIVAL, GUILHERME S.; MARCHITTO, VANIA B. T.; et al. A non-functional galanin receptor-2 in a multiple sclerosis patient. PHARMACOGENOMICS JOURNAL, v. 19, n. 1, p. 72-82, FEB 2019. (15/07925-5, 16/06488-3, 13/24293-7)