Association between polymorphisms and gene expression of BCMO1 (beta carotene 15,15' monooxygenase) and serum beta carotene and retinol level in Brazilian population groups

• Grant number: 11/07057-2
• Support Opportunities: Regular Research Grants
• Start date: December 01, 2011
• End date: May 31, 2014
• Field of knowledge: Health Sciences - Nutrition - Nutrition Biochemistry
• Principal Investigator: Lucia Regina Ribeiro
• Grantee: Lucia Regina Ribeiro
• Host Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil
• Associated researchers: Chris Evelo ; Daisy Maria Favero Salvadori ; George Lietz ; Glenda Nicioli da Silva ; Vanessa Lorenço Peresi

Abstract

Vitamin A is the generic term used to describe all compounds with biological activity of retinol. Vitamin A and its precursors protect against the decline of muscle strength, physical and cognitive disability, act in maintaining health and preventing diseases like cancer and cardiovascular disease, macular degeneration and cataracts. The vitamin A deficiency is a serious public health problem that affects mainly pregnant and lactating women and children in preschool, with an estimated 250 million people at risk of developing the disorders resulting from vitamin A deficiency in the world. Brazil was ranked by the World Health Organization and the Pan American Health Organization as an area of severe shortage of sub-clinical, where about 70% of children of preschool age have a deficiency of vitamin A. The enzyme responsible for conversion of betacarotene to retinal is the betacarotene 15.15`monooxygenase (BCMO1). Population studies indicate that a significant portion of individuals is classified as poor converters of betacarotene to vitamin A. This broad inter-individual differences can be caused by reduction of enzymatic activity as a consequence of genetic polymorphisms in the gene BCMO1. Two SNPs (R267S and A379V) gene BCMO1 characterized biochemically in vitro, and recombinant 267S/379V are related to the decrease in catalytic activity of the enzyme BCMO1. The aim of this study is to assess the polymorphic variants A379V and R267S/A379V BCMO1 gene, which determines the expression of the enzyme betacarotene 15,15'monooxygenase in population groups, which show deficiency of Vitamin A, considering the variables sex and ethnicity. (AU)