Discovery of Novel Serum Biomarkers for Prenatal Down Syndrome Screening by Integrative Data Mining

Pennings, Jeroen L. A.; Koster, Maria P. H.; Rodenburg, Wendy; Schielen, Peter C. J. I.; Vries, Annemieke de

doi:10.1371/journal.pone.0008010

Cited by 22 publications

(24 citation statements)

References 46 publications

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“…The most significant altered gene was Alfa-fetoprotein (AFP), a major foetal plasma protein produced by the yolk sac and the liver. This glycoprotein is widely used as a maternal serum protein biomarker of Down syndrome and adverse perinatal outcome (Pennings et al 2009, Allen et al 2013. However, we observed the mRNA expression of this gene in the foetal placenta, indicating that this tissue could also contribute to the elevated levels commonly associated with developmental foetus alterations.…”

Section: Discussionmentioning

confidence: 71%

Vitrification alters rabbit foetal placenta at transcriptomic and proteomic level

Saenz-de-Juano¹,

Marco‐Jiménez²,

Schmaltz-Panneau³

et al. 2014

Reproduction

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Although numerous studies have demonstrated that cryopreservation alters gene expression, less is known about those embryos that implanted successfully and continued in gestation. To raise the question of the neutrality of this technique, we examine the effects of vitrification through gestation in rabbit before and after the implantation. We monitored the distribution of losses of 569 vitrified morulae, observing that embryos which reach the last pre-implantatory stage are able to implant. However, we found that not all implanted embryos had the ability to continue with their gestation. The results reveal that vitrification decreased foetus and maternal placenta weights at mid-gestation, but led to a higher offspring birth weight. A novel finding is that while no differences in gene expression were detected in pre-implantatory embryos at day 6, vitrification affects a gene and protein expression in the placenta at day 14. Our results for first time reveal strong evidence of modifications in implanted embryos subjected to vitrification, suggesting that the crucial step that vitrified embryos must overcome is the placenta formation. On the basis of these findings, our work leaves the question open as to whether the effects we observed that cause vitrification during foetal development could give rise to some type of physiological or metabolic alteration in adulthood.

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Section: Discussionmentioning

confidence: 71%

Vitrification alters rabbit foetal placenta at transcriptomic and proteomic level

Saenz-de-Juano¹,

Marco‐Jiménez²,

Schmaltz-Panneau³

et al. 2014

Reproduction

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“…A bioinformatics approach was developed to use data from the literature on genes and www.intechopen.com protein expression and data-textmining tools. This way, a list of 49 potential DS screening markers was generated (Pennings et al, 2009). The list included three biomarkers that are already used for DS screening (AFP, fβ-hCG and PAPP-A) and several others, among which proteins that have been examined as potential biomarkers before.…”

Section: Proteomics Techniques To Identify New Screening Markers For mentioning

confidence: 99%

Innovations in Down Syndrome Screening

Koster¹,

Vries²,

Visser³

et al. 2011

Prenatal Diagnosis and Screening for Down Syndrome

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“…This approach has been used for discovery of biomarkers for ovarian cancers,[3, 10] coronary artery disease,[38] Sjogren’s disease,[24] and pre-natal screening for Down syndrome. [50, 63] The MAP panel currently includes in its membership 189 analytes, and the levels of many MAP analytes have been proposed to be altered in AD when contrasted against non-AD cases[19, 29, 65, 72]. The initial version of the RBM MAP panel available to us for CSF biomarker studies included 151 analytes, although only 106 analytes had measurable levels in the CSF.…”

Section: Alzheimer’s Diseasementioning

confidence: 99%

Biomarker discovery for Alzheimer’s disease, frontotemporal lobar degeneration, and Parkinson’s disease

Chen‐Plotkin

Arnold

et al. 2010

Acta Neuropathol

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Ante-mortem diagnosis of neurodegenerative disorders based on clinical features alone is associated with variable sensitivity and specificity, and biomarkers can potentially improve the accuracy of clinical diagnosis. In patients suspected of having Alzheimer's disease (AD), alterations in cerebrospinal fluid (CSF) biomarkers that reflect the neuropathologic changes of AD strongly support the diagnosis, although there is a trade-off between sensitivity and specificity due to similar changes in cognitively healthy subjects. Here we review the current approaches in using CSF AD biomarkers (total tau, p-tau181, and Aβ42) to predict the presence of AD pathology, and our recent work using multi-analyte profiling to derive novel biomarkers for biofluid-based AD diagnosis. We also review our use of the multi-analyte profiling strategy to identify novel biomarkers that can distinguish between subtypes of frontotemporal lobar degeneration, and those at risk of developing cognitive impairment in Parkinson's disease. Multi-analyte profiling is a powerful tool for biomarker discovery in complex neurodegenerative disorders, and analytes associated with one or more diseases may shed light on relevant biological pathways and potential targets for intervention.

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Discovery of Novel Serum Biomarkers for Prenatal Down Syndrome Screening by Integrative Data Mining

Cited by 22 publications

References 46 publications

Vitrification alters rabbit foetal placenta at transcriptomic and proteomic level

Vitrification alters rabbit foetal placenta at transcriptomic and proteomic level

Innovations in Down Syndrome Screening

Biomarker discovery for Alzheimer’s disease, frontotemporal lobar degeneration, and Parkinson’s disease

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