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

Abstract

UNLABELLED:

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.

• Authors: J Martínez Pinilla, P Ayala-Ramírez, R García-Robles, M Olaya-C, M Bermúdez
• Journal: Journal of neonatal-perinatal medicine (J Neonatal Perinatal Med) Vol. 8 Issue 2 Pg. 77-84 ( 2015) ISSN: 1878-4429 [Electronic] Netherlands
• PMID: 26410429 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• MicroRNAs
• Cystathionine beta-Synthase

Topics

• Colombia (epidemiology)
• Cystathionine beta-Synthase (metabolism)
• Down Syndrome (enzymology)
• Female
• Gene Expression Profiling
• Gene Expression Regulation, Developmental
• Humans
• Immunohistochemistry
• Infant, Newborn
• MicroRNAs (metabolism)
• Placenta (enzymology)
• Pregnancy
• Real-Time Polymerase Chain Reaction