| BackgroundCongenital scoliosis (CS) is defined as a lateral curvature of the spine due to a developmental abnormality, which arise from defects in the development of the axial skeleton. During embryogenesis, the axial skeleton is formed by a process called somitogenesis. which produces transient segments of tissue known as somites. Disruptions in somitogenesis have been shown to result in vertebral malformations, including uneven segments (hemivertebrae and wedge vertebrae), fused segments (block vertebrae), and problems in midline fusion (butterfly vertebrae). Vertebral defects can arise from the disruption of genes involved in development, enviromental insults during gestation, or a combination of these two factors.Most of current research on the CS is about the treatment of the disease, and the basic research on the etiology is few. As the development of genetics and molecular biology in recent years, several preliminary studies about candidate gene contributed to vertebral malformation in human were reported and the genetic etiology hypothesis of CS has caused more and more interests. More evidences suggest that CS may be multigenetic disease. Furthermore, there has no molecular biology study been reported. Therefore, It is very important to ascertain the etiology of CS and establish related molecular markers predicting and controlling the scoliosis. The recently introduced differential in gel electrophoresis(DIGE) technology is believed to be a highly reliable and accurate tool for quantitative analysis of differentially expressed proteins. Comparative Analysis of Serum Proteomes of CS contribute to understand the molecular mechanism of pathogenesis of CS and can provide effective molecular markers to diagnosis and control this disease.Objectives:1. To establish two dimensional difference in gel (2D-DIGE) of serum of CS and control.2. To identify the differently expressed proteins in sernm of patients using mass spectrometry techniques.3. To analyze the role of the identified proteins in the development of CS through the present protein functional network of research results. Methods1. Serum was collected from 15 CS patients and 15 age-and gender-matched patients without scoliosis. The samples were labeled with different CyDye, followed by 2D-DIGE, map scanning, and then the maps of protein spots were compared using specific software DeCyder v5.02.2. The differentially expressed spots were identified by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and IPI-HUMAN data base.Results1.155 spots that were differently expressed in the sera of CS patients were found and identified. There were 62 proteins significantly up-regulated and 93 spots significantly down-regulated in serum of CS patients.2. The differentially expressed spots were identified by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS).16 proteins were identified from samples of CS.Conclusions1.This is the first time to study comparative serum proteomes of CS. And the serum 2D-DIGE of CS patients and controlls were successfully settled.2. There were 15 protein spots of significance between patients with CS and controlls analyzed by DeCyder. Though the result is preliminary, and it is still not clear that these differences are original factors of CS or secondary cellular responses to deformity reactions. Further investigations are necessary to illustrate the functioning pathway, the specificity and the mechanism of how these proteins contribute to pathogenesis of CS. The information obtained with this proteomic analysis will be very useful in understanding the pathophysiology of CS as well as in finding candidates as new diagnostic biomarkers or drug targets of CS.
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