Affiliations: [a] Pontificia Universidad Javeriana, Bogotá D.C., Colombia | [b] Institute in Human Genetics, Pontificia Universidad Javeriana, Bogotá D.C., Colombia | [c] Nutrition, Genetics and Metabolism Research Institute, Universidad el Bosque, Bogotá D.C., Colombia | [d] Hospital Universitario San Ignacio, Pontificia Universidad Javeriana, Bogota D.C., Colombia
Corresponding author: Paola Ayala-Ramirez, carrera 7 número 40-62, Pontificia Universidad Javeriana, Bogota, D.C., Colombia. Tel.: +57 1 3208320/Ext. 2791; email@example.com
Abstract: Down syndrome is the most frequent aneuploidy in live births, with an overall frequency of 1/600-700 births. The overexpression of cystathionine β-synthase is thought to participate in the presentation of some phenotypes observed in Down syndrome.
OBJECTIVE: The aim of this study was to compare the expression levels of cystathionine β-synthase and histopathological observations from placentas of infants with Down syndrome and healthy newborns.
MATERIALS AND METHODS: Six placentas of fetuses/infants with Down syndrome and sixteen placentas of healthy fetuses were studied. Cystathionine β-synthase mRNA and protein expression were performed by real-time PCR and immunohistochemistry, respectively.
RESULTS: We observed an increase in cystathionine β-synthase mRNA expression (p = 0.0465) and protein levels (p = 0.009) in placentas of fetus/infants with Down syndrome compared with controls. Significantly more circinate edges (p = 0.0007) and trophoblast inclusions (p = 0.0037) were observed in the group with Down syndrome compared with control group.
CONCLUSION: The results demonstrate overexpression of cystathionine β-synthase mRNA and protein in placentas of fetuses/infants with trisomy 21. Further histological abnormalities were found in placentas of patients with Down syndrome, suggesting an alteration in the development of placenta.
Keywords: Cystathionine β-synthase, Down syndrome, placenta