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Evaluation of the frequency of thepolymorphism fok1 of Vitamin D receptor (gene (VDR) in the etiology of disc degeneration

Grant number: 12/21886-4
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): February 01, 2013
Effective date (End): December 31, 2013
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Luciano Miller Reis Rodrigues
Grantee:Patricia Leme de Marchi
Home Institution: Faculdade de Medicina do ABC (FMABC). Organização Social de Saúde. Fundação do ABC. Santo André , SP, Brazil

Abstract

The intervertebral disc is a fibrocartilaginous structure whose main function is to act as a buffer, transmitting compressive loads between the vertebral bodies. The process of disc degeneration is associated with several clinical conditions, including low back pain or sciatic pain (narrowing of the spinal canal in the lower back). Low back pain is one of the most common health problems in society, an important cause of disability, work absenteeism, and use of health services. Approximately 50 to 80% of the population will have an episode of back pain during their lifetime. Intervertebral disc degeneration is considered the main factor source of low back pain. Previously, disc degeneration was seen as a result of aging and mechanical insults, and prevention strategies were focused primarily on mechanical factors as the primary cause. Today disc degeneration is a condition seen as largely influenced by genetics associated with environmental factors, although these have less influence, also have an important role in the etiology of the disease.13 risk factors described in the literature include constitutional and environmental factors, such as occupational load, type of work (occupational vibration while driving), mental stress, smoking, height and weight, although the subject is controversial. Vitamin D is known as a hormone that regulates calcium homeostasis and bone mineralization. Most of the biological activities of vitamin D are mediated by a high-affinity receptor that acts as a transcription factor activated by the ligand-receptor gene vitamin D (VDR). Genetic alterations in the VDR gene can lead to major defects in the gene activation affecting calcium metabolism, cell proliferation, immune function, etc., which can be explained by changes in protein conformation. Changes in a gene sequence, such as polymorphisms, can occur in a non-coding region of the gene (introns) affecting the level of gene expression, and thus protein levels and also in coding regions (exons) and lead to changes in the sequence of the protein. Little is known about the VDR gene polymorphisms and their implications for gene function. The single nucleotide polymorphisms - SNPs (Single Nucleotide Polymorphisms) in the human genome are common and often occur in specific genes involved in the genesis ¬ oped and susceptibility to human diseases. It is known, however, that Fok1 polymorphism in exon 2 of the VDR gene leads to an alternate site of initiation of transcription, resulting in a protein with the addition of three amino acids. Thus, we hypothesized a possible relationship between the polymorphism of the VDR gene Fok1 and disc degeneration. Few studies have been conducted involving disc degeneration and the system of vitamin D and, to date, no studies in the Brazilian population.(AU)

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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)
VIEIRA, LUIZ ANGELO; DE MARCHI, PATRICIA LEME; DOS SANTOS, ALINE AMARO; CHRISTOFOLINI, DENISE MARIA; BARBOSA, CAIO PARENTE; AFFONSO FONSECA, FERNANDO LUIZ; BIANCO, BIANCA; RODRIGUES, LUCIANO MILLER R. Analysis of FokI Polymorphism of Vitamin D Receptor Gene in Intervertebral Disc Degeneration. GENETIC TESTING AND MOLECULAR BIOMARKERS, v. 18, n. 9, p. 625-629, SEP 2014. Web of Science Citations: 20.

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