Verification of foetal Down syndrome biomarker proteins in maternal plasma and applications in prenatal screening for Down syndrome

Sui, Weiguo; Gan, Qing; Gong, Wei; Wei, Xiaolian; Ou, Minglin; Tang, Donge; Jing, Huanyun; Lin, Hua; Zhang, Yue; Dai, Yong

doi:10.1186/s41231-018-0028-x

Cited by 4 publications

(9 citation statements)

References 40 publications

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“…CLUS, an acute phase protein, is involved in diseases related to oxidative stress [ 81 ]. In this case, the disturbed protein profile observed in the maternal compartment resulting from T21 pregnancy could be related to the many comorbidities observed in T21 fetuses [ 79 , 82 , 83 ].…”

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

“…Sui et al reported increased levels of seven proteins (oxoglutarate dehydrogenase L (OGDHL), serum amyloid P component (SAP), ApoE, nucleosome assembly protein 1-like 1 (NAP1L1), thymosin beta 10 (Tβ10), complement factor B, and endoplasmic reticulum oxidoreductase 1 alpha (ERO1L)) in maternal plasma and umbilical cord blood obtained from T21 pregnancies [ 83 ]. The study was conducted on maternal peripheral blood (eight with fetal DS and eight with normal fetuses) using Western blotting.…”

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

“…The study was conducted on maternal peripheral blood (eight with fetal DS and eight with normal fetuses) using Western blotting. OGDHL is a functionally active isoenzyme of oxoglutarate dehydrogenase (OGDH) present in brain tissue, the main malfunction of which is related to neurodegeneration [ 83 ]. SAP can interfere with lipoprotein metabolism by activating and regulating amyloid formation [ 83 ].…”

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

“…OGDHL is a functionally active isoenzyme of oxoglutarate dehydrogenase (OGDH) present in brain tissue, the main malfunction of which is related to neurodegeneration [ 83 ]. SAP can interfere with lipoprotein metabolism by activating and regulating amyloid formation [ 83 ]. NAP1L1 has a prominent role in the early development of cardiac or stem cells that differentiate into myocardial cells [ 83 ].…”

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

“…SAP can interfere with lipoprotein metabolism by activating and regulating amyloid formation [ 83 ]. NAP1L1 has a prominent role in the early development of cardiac or stem cells that differentiate into myocardial cells [ 83 ]. Tβ10 is related to cell proliferation, cell morphology, cell migration, and endocytosis and participates in cytoskeleton assembly.…”

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

See 4 more Smart Citations

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

et al. 2021

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Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the partial or complete triplication of chromosome 21. Despite the significant progress in the diagnostic tools applied for prenatal screening, commonly used methods are still imprecise and involve invasive diagnostic procedures that are related to a maternal risk of miscarriage. In this case, novel prenatal biomarkers are still being evaluated using highly specialized techniques, which could increase the diagnostic usefulness of biochemical prenatal screening for T21. From the other hand, the T21′s pathogenesis, caused by the improper division of genetic material, disrupting many metabolic pathways, could be further evaluated with the use of omics methods, which could result in bringing relevant insights for the evaluation of potential medical targets. Accordingly, a literature search was undertaken to collect novel information about prenatal screening for Down syndrome with the use of advanced technology, with a particular emphasis on the evaluation of novel screening biomarkers and the discovery of potential medical targets. These meta-analyses are focused on novel approaches designed with the use of omics techniques, representing the most rapidly developing and promising field in research today. Considering the limitations and progress of these methods, the use of omics techniques in evaluating T21 pathogenesis could bring beneficial results in prenatal screening, simultaneously uncovering novel potential medical targets.

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Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

Section: Proteomics and Down Syndrome Screeningmentioning

confidence: 99%

See 3 more Smart Citations

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

et al. 2021

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Fetal-maternal interactions with gluten immunogenic peptides during pregnancy: a new determinant on the coeliac exposome

Moreno,

González-Rovira,

Martínez-Pancorbo

et al. 2024

Preprint

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The increasing incidence of coeliac disease is leading to a growing interest in active search for associated factors, even the intrauterine and early life. The exposome approach to disease encompasses a lifecourse perspective from conception onwards has recently been highlighted. Knowledge of early exposure to gluten immunogenic peptides (GIP) in utero could challenge the chronology of early prenatal tolerance or inflammation, rather than after the infant's solid diet after birth. We developed an accurate and specific immunoassay to detect GIP in amniotic fluid (AF) and studied their accumulates, excretion dynamics and foetal exposure resulting from AF swallowing. 119 pregnant women with different gluten diets and gestational ages were recruited. GIP were detectable in AF from at least the 16th gestational week in gluten-consuming women. Although no significant differences in GIP levels were observed during gestation, amniotic GIP late pregnancy was not altered by maternal fasting, suggesting closed-loop entailing foetal swallowing of GIP-containing AF and subsequent excretion via the foetal kidneys. The study shows evidence, for the first time, of the fetal exposure to gluten immunogenic peptides, and establish a positive correlation with maternal gluten intake. The results obtained point to a novel physiological concept as they describe a closed-loop circuit entailing fetal swallowing of GIP contained in AF, and its subsequent excretion through the fetal kidneys. The study adds important new information to understanding the coeliac exposome.

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Foetal gluten immunogenic peptides during pregnancy: a new determinant on the coeliac exposome

Moreno,

González-Rovira,

Martínez-Pancorbo

et al. 2024

BMC Med

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Background The increasing incidence of coeliac disease is leading to a growing interest in active search for associated factors, even the intrauterine and early life. The exposome approach to disease encompasses a life course perspective from conception onwards has recently been highlighted. Knowledge of early exposure to gluten immunogenic peptides (GIP) in utero could challenge the chronology of early prenatal tolerance or inflammation, rather than after the infant’s solid diet after birth. Methods We developed an accurate and specific immunoassay to detect GIP in amniotic fluid (AF) and studied their accumulates, excretion dynamics and foetal exposure resulting from AF swallowing. One hundred twenty-five pregnant women with different gluten diets and gestational ages were recruited. Results GIP were detectable in AF from at least the 16th gestational week in gluten-consuming women. Although no significant differences in GIP levels were observed during gestation, amniotic GIP late pregnancy was not altered by maternal fasting, suggesting closed-loop entailing foetal swallowing of GIP-containing AF and subsequent excretion via the foetal kidneys. Conclusions The study shows evidence, for the first time, of the foetal exposure to gluten immunogenic peptides and establishes a positive correlation with maternal gluten intake. The results obtained point to a novel physiological concept as they describe a plausible closed-loop circuit entailing foetal swallowing of GIP contained in AF and its subsequent excretion through the foetal kidneys. The study adds important new information to understanding the coeliac exposome.

show abstract

Verification of foetal Down syndrome biomarker proteins in maternal plasma and applications in prenatal screening for Down syndrome

Cited by 4 publications

References 40 publications

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

Novel Approaches to an Integrated Route for Trisomy 21 Evaluation

Fetal-maternal interactions with gluten immunogenic peptides during pregnancy: a new determinant on the coeliac exposome

Foetal gluten immunogenic peptides during pregnancy: a new determinant on the coeliac exposome

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