Abstract
Background: Aneuploidy is a genetic condition characterized by an abnormal number of chromosomes in a cell. The reduced fitness of most aneuploid cells led to the hypothesis that aneuploidy induces stress due to imbalanced global gene expression. In this study, we used proteomic analysis to analyze possible cellular stress mechanisms by comparing the serum of pregnant women between those carrying aneuploid fetuses and those carrying normal fetuses. Materials and methods: Women in their second trimester of pregnancy carrying an aneuploid fetus or a healthy fetus, as determined by ultrasound, were invited to participate in the study. The women’s serum proteome was analyzed using a UPLC-QTof/MS/MS system. We identified differentially accumulated proteins between the groups and generated a network of proteins that were up accumulated in the aneuploidy group. Results: The proteome comparison between five pregnant women carrying a fetus with aneuploidy (two with T13 and three with T18) and ten mothers carrying a normal fetus (mean gestational age:18.5 weeks) yielded 16 differentially accumulated proteins, eight from each group. The down-accumulated proteins were zinc finger protein 13 (which contains a CCCH domain), layilin, C-C chemokine receptor type 10, transcription factor TFIIB, TATA Box Binding Protein, G protein-coupled receptor, Malate dehydrogenase (MDH1), and Heavy chain mu. The up-accumulated proteins were ATP-synthase, Helicase, TAP1, Rho GTPase-activating protein 28, Microtubule-Associated Protein 4, Serotonin transporter, Plasma membrane transporter, and Interferon gamma receptor 1. Conclusion: We have demonstrated differential expressions of proteins that interfere with cell cycle, energy production, and immunity in the serum of mothers carrying aneuploid fetuses, which may represent cell stress or an aberrant cell cycle due to the disrupted stoichiometry of genes and proteins triggered by the fetal aneuploid tissues. Also, the protein networks of overexpressed proteins showed complex evolution in many biochemical pathways of the central nervous system.