title: Potential biomarkers for Turner in maternal plasma: possibility for noninvasive prenatal diagnosis.
abstract: Turner syndrome (TS) is the most common sex chromosome abnormality in females, caused by the complete or partial absence of one X chromosome. To identify biomarkers for TS, we compared the protein composition of maternal plasma samples from pregnant women with normal and TS fetuses, using a proteomic approach consisting of 2D-E separation and MS analysis for the identification of the differentially expressed proteins. Samples were routinely obtained in the second trimester of pregnancy, stored, and used after prenatal determination of the fetal karyotype. Nine proteins (C1S, CO3, CLUS, AFAM, HABP2, IGHA1, HPT, SHBG, and CD5L) were significantly increased in the plasma of women carrying TS fetuses, whereas KNG1, IGJ, and TTHY were decreased. Identified proteins were further evaluated by immunoblot analysis while functional network association was carried out to asses significance. The identification of specific biomarkers may facilitate the development of noninvasive prenatal diagnosis and improve our understanding of the pathology of TS. Nevertheless, testing a larger cohort of pregnant women is necessary to evaluate the relevance of the reported findings.
authors.affiliation: Medical Genetics, Athens University School of Medicine, Athens, Greece.
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Kolialexi
authors.forename: Athanasios K
authors.initials: AK
authors.lastname: Anagnostopoulos
authors.forename: Nikos
authors.initials: N
authors.lastname: Papantoniou
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Vougas
authors.forename: Aris
authors.initials: A
authors.lastname: Antsaklis
authors.forename: Michael
authors.initials: M
authors.lastname: Fountoulakis
authors.forename: Ariadni
authors.initials: A
authors.lastname: Mavrou
authors.forename: George Th
authors.initials: GT
authors.lastname: Tsangaris
mesh_terms: D051017:Apoptosis Regulatory Proteins; D015415:Biomarkers / Q000097:blood*; D015153:Blotting, Western; D016022:Case-Control Studies; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005315:Fetal Diseases / Q000097:blood* / Q000175:diagnosis; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods; D020543:Proteome / Q000032:analysis; D040901:Proteomics / Q000379:methods; D051116:Receptors, Scavenger; D051122:Scavenger Receptors, Class B / Q000097:blood; D012697:Serine Endopeptidases / Q000097:blood; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D014424:Turner Syndrome / Q000097:blood* / Q000175:diagnosis
chemical_list: D051017:Apoptosis Regulatory Proteins; D015415:Biomarkers; C492821:CD5L protein, human; D020543:Proteome; D051116:Receptors, Scavenger; D051122:Scavenger Receptors, Class B; C433550:HABP2 protein, human; D012697:Serine Endopeptidases