title: Placenta proteome analysis from Down syndrome pregnancies for biomarker discovery.
abstract: Down syndrome is one of the most frequent chromosomal disorders, with a prevalence of approximately 1/500 to 1/800, depending on the maternal age distribution of the pregnant population. However, few reliable protein biomarkers have been used in the diagnosis of this disease. Recent progress in quantitative proteomics has offered opportunities to discover biomarkers for tracking the progression and for understanding the molecular mechanisms of Down syndrome. In the present study, placental samples were analyzed by fluorescence two-dimensional differential gel electrophoresis (2D-DIGE) and differentially expressed proteins were identified by matrix assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). In total, 101 proteins have been firmly identified representing 80 unique gene products. These proteins mainly function in cytoskeleton structure and regulation (such as vimentin and Profilin-1). Additionally, our quantitative proteomics approach has identified numerous previously reported Down syndrome markers, such as myelin protein. Here we present several Down syndrome biomarkers including galectin-1, ataxin-3 and sprouty-related EVH1 domain-containing protein 2 (SPRED2), which have not been reported elsewhere and may be associated with the progression and development of the disease. In summary, we report a comprehensive placenta-based proteomics approach for the identification of potential biomarkers for Down syndrome, in which serum amyloid P-component (APCS) and ataxin-3 have been shown to be up-regulated in the maternal peripheral plasma of Down syndrome cases. The potential of utilizing these markers for the prognosis and screening of Down syndrome warrants further investigation.
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Chih-Ping
authors: CP
authors: Chen
authors: You-Hsuan
authors: YH
authors: Chen
authors: Schu-Rern
authors: SR
authors: Chern
authors: Shing-Jyh
authors: SJ
authors: Chang
authors: Te-Lung
authors: TL
authors: Tsai
authors: Sheng-Hsiang
authors: SH
authors: Li
authors: Hsiu-Chuan
authors: HC
authors: Chou
authors: Yi-Wen
authors: YW
authors: Lo
authors: Ping-Chiang
authors: PC
authors: Lyu
authors: Hong-Lin
authors: HL
authors: Chan
mesh_terms: D000067699:Ataxin-3; D015415:Biomarkers / Q000032:analysis*; D004314:Down Syndrome / Q000378:metabolism*; D015180:Electrophoresis, Gel, Two-Dimensional; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D037483:Galectin 1 / Q000378:metabolism; D006801:Humans; D015151:Immunoblotting; D008297:Male; D009419:Nerve Tissue Proteins / Q000378:metabolism; D009687:Nuclear Proteins / Q000378:metabolism; D010920:Placenta / Q000378:metabolism*; D011247:Pregnancy; D020543:Proteome / Q000032:analysis*; D040901:Proteomics / Q000379:methods; D012097:Repressor Proteins / Q000378:metabolism; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D015415:Biomarkers; D037483:Galectin 1; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D020543:Proteome; D012097:Repressor Proteins; C500760:SPRED2 protein, human; C092341:ATXN3 protein, human; D000067699:Ataxin-3