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Study of spine muscles rotators spine in patients with adolescent idiopathic scoliosis and analysis of gene expression of tissue angiotensin converting enzyme (ACE)

Grant number: 14/22251-8
Support type:Regular Research Grants
Duration: March 01, 2015 - February 28, 2017
Field of knowledge:Health Sciences - Medicine
Principal researcher:Marcelo Wajchenberg
Grantee:Marcelo Wajchenberg
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

The adolescent idiopathic scoliosis (AIS) is a lateral deviation of the spine associated with vertebral rotation whose etiology is not defined. There are several theories proposed, but no absolutely conclusive. Since the 19th century it was reported the involvement of the dorsal musculature as responsible for the deformity. Authors suggested that the involvement of the muscles could be primary, by erecting myopathy mainly affecting the paraspinal musculature, but it was also suggested that the pattern of involvement of the muscles could be due to neuromuscular disease.Population and family studies have been conducted to try to identify a genetic standard for the transmission of the disease. With the start of the Human Genome Project in 1990, several studies in genetics have been developed to try to clarify the etiology of diseases, including the AIS, with probable genetic cause trying to map the genes responsible through linkage studies. However these studies have limitations concerning the definition of individuals affected by the disease because the phenotype is variable.Recently authors attempt to relate genetic polymorphisms to AIS. Genetic polymorphism is characterized by variations in non-repetitive sequences present in the genome, the most common being the single nucleotide (SNP) as well as insertion and deletion polymorphisms. Some polymorphisms have been linked to the physical performance by influence of the muscle tissue between them stands gene angiotensin converting enzyme (ACE) inhibitors, with insertion (allele I) or deletion (allele D) of 287 base pairs acting in the production of angiotensin I, substance with vasoconstrictor and may influence muscle with aerobic characteristics (prevalence of type I fibers) like the erector and rotators of the spine.In order to assess the relationship of polymorphism of the ACE gene with the development of the AIS the project aims to analyze the histological findings of the rotator muscles of the spine collected during corrective surgery to quantify the gene expression of ACE in tissue collected correlating with the respective polymorphism. (AU)

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