Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down Syndrome screening

Background

As a first step to identify novel potential biomarkers for prenatal DownSyndrome screening, we analyzed gene expression in embryos of wild type miceand the Down Syndrome model Ts1Cje. Since current Down Syndrome screeningmarkers are derived from placenta and fetal liver, these tissues were chosenas target.

Methodology/Principal Findings

Placenta and fetal liver at 15.5 days gestation were analyzed by microarrayprofiling. We confirmed increased expression of genes located at thetrisomic chromosomal region. Overall, between the two genotypes moredifferentially expressed genes were found in fetal liver than in placenta.Furthermore, the fetal liver data are in line with the hematologicalaberrations found in humans with Down Syndrome as well as Ts1Cje mice.Together, we found 25 targets that are predicted (by Gene Ontology, UniProt,or the Human Plasma Proteome project) to be detectable in human serum.

Conclusions/Significance

Fetal liver might harbor more promising targets for Down Syndrome screeningstudies. We expect these new targets will help focus further experimentalstudies on identifying and validating human maternal serum biomarkers forDown Syndrome screening.