Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with down syndrome

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.

• Autores: J. Martínez, Pinilla; Ayala-Ramírez, P.; García-Robles, R.; Olaya-C, M.; Bermúdez, M.
• Tipo de recurso: https://purl.org/coar/resource_type/c_6501
• Fecha de publicación: 2015
• Institución: Universidad El Bosque
• Repositorio: Repositorio U. El Bosque
• Idioma: eng
• OAI Identifier: oai:repositorio.unbosque.edu.co:20.500.12495/3726
• Acceso en línea: https://hdl.handle.net/20.500.12495/3726; https://doi.org/10.3233/NPM-15814092; https://repositorio.unbosque.edu.co
• Palabra clave: Cystathionine β-synthase; Down syndrome; Placenta
• License: Acceso abierto