Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples

Monni, Giovanni; Murgia, Federica; Corda, Valentina; Peddes, C.; Iuculano, Ambra; Tronci, Laura; Balsamo, Antonella; Atzori, Luigi

doi:10.3390/jcm8060798

Cited by 12 publications

(11 citation statements)

References 29 publications

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“…One approach to identifying novel biomarkers of disease uses metabolomics in a combination of analytical and biochemical techniques [12]. Nuclear magnetic resonance spectroscopy (NMR) and mass spectrometry (MS) are the most frequently employed techniques in metabolomics and are powerful methods for differentiating the diversities between cases and controls [13,14]. Bioinformatics increases the value of metabolomic analysis by assessing general biochemical and signaling pathways that may be altered in disease states [15].…”

Section: Introductionmentioning

confidence: 99%

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

et al. 2020

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Infertility affects 12–15% of couples worldwide, and male factors are the cause of nearly half of all cases. Studying seminal fluid composition could lead to additional diagnostic accuracy and a better understanding of the pathophysiology of male factor infertility. Metabolomics offers a new opportunity to evaluate biomarkers and better understand pathological mechanisms. The aim of the study was to identify new markers or therapeutic targets to improve outcomes in male factor or idiopathic infertility patients. Semen samples were obtained from 29 men with a normal spermogram test, and from 18 oligozoospermic men. Samples were processed and analyzed by Nuclear Magnetic Resonance spectroscopy and, subsequently, multivariate and univariate statistical analyses. Receiving Operator Curves (ROC) and Spearman correlations were also performed. An Orthogonal Partial Least Square Discriminant Analysis supervised multivariate model was devised to compare the groups. The levels of fructose, myo-inositol, aspartate and choline were altered. Moreover, Spearman Correlation associated fructose, aspartate and myo-inositol with the total amount of spermatozoa, total motile spermatozoa, % of immotility and % of “in situ” spermatozoic motility respectively. NMR-based metabolomics allowed the identification of a specific metabolic fingerprint of the seminal fluids of patients affected by oligozoospermia.

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Section: Introductionmentioning

confidence: 99%

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

et al. 2020

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“…Untargeted lipidomics approaches have emerged as a useful tool for the discovery of underlying disease mechanisms and novel biomarkers [32,33]. Only a few metabolomics studies have been conducted in thalassemia patients, yet none used a comprehensive untargeted lipidomic approach, and only one study was conducted using adult thalassemia patients [17,[34][35][36].…”

Section: Discussionmentioning

confidence: 99%

Identification of Circulating Endocan-1 and Ether Phospholipids as Biomarkers for Complications in Thalassemia Patients

et al. 2021

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Despite advances in our knowledge and attempts to improve therapies, β-thalassemia remains a prevalent disorder with increased risk for the development of cardiomyopathy. Using an untargeted discovery-based lipidomic workflow, we uncovered that transfusion-dependent thalassemia (TDT) patients had a unique circulating lipidomic signature consisting of 387 lipid features, allowing their significant discrimination from healthy controls (Q-value < 0.01). In particular, TDT patients had elevated triacylglycerols and long-chain acylcarnitines, albeit lower ether phospholipids or plasmalogens, sphingomyelins, and cholesterol esters, reminiscent of that previously characterized in cardiometabolic diseases resulting from mitochondrial and peroxisomal dysfunction. Discriminating lipid (sub)classes correlated differentially with clinical parameters, reflecting blood (ether phospholipids) and iron (cholesterol ester) status or heart function (triacylglycerols). We also tested 15 potential serum biomarkers related to cardiometabolic disease and found that both lipocalin-2 and, for the first time, endocan-1 levels were significantly elevated in TDT patients and showed a strong correlation with blood parameters and three ether diacylglycerophosphatidylcholine species. In conclusion, this study identifies new characteristics of TDT patients which may have relevance in developing biomarkers and therapeutics.

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“…In some cases, phenotypic or genetic heterogeneity can make prenatal diagnosis difficult (e.g., β-thalassemia, Noonan's syndrome). Nonetheless, Monni et al found that pregnancies affected by β-thalassemia exhibit significant metabolic changes (123).…”

Section: Single-gene Disordersmentioning

confidence: 99%

Metabolomics in Prenatal Medicine: A Review

et al. 2021

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Pregnancy is a complicated and insidious state with various aspects to consider, including the well-being of the mother and child. Developing better non-invasive tests that cover a broader range of disorders with lower false-positive rates is a fundamental necessity in the prenatal medicine field, and, in this sense, the application of metabolomics could be extremely useful. Metabolomics measures and analyses the products of cellular biochemistry. As a biomarker discovery tool, the integrated holistic approach of metabolomics can yield new diagnostic or therapeutic approaches. In this review, we identify and summarize prenatal metabolomics studies and identify themes and controversies. We conducted a comprehensive search of PubMed and Google Scholar for all publications through January 2020 using combinations of the following keywords: nuclear magnetic resonance, mass spectrometry, metabolic profiling, prenatal diagnosis, pregnancy, chromosomal or aneuploidy, pre-eclampsia, fetal growth restriction, pre-term labor, and congenital defect. Metabolite detection with high throughput systems aided by advanced bioinformatics and network analysis allowed for the identification of new potential prenatal biomarkers and therapeutic targets. We took into consideration the scientific papers issued between the years 2000–2020, thus observing that the larger number of them were mainly published in the last 10 years. Initial small metabolomics studies in perinatology suggest that previously unidentified biochemical pathways and predictive biomarkers may be clinically useful. Although the scientific community is considering metabolomics with increasing attention for the study of prenatal medicine as well, more in-depth studies would be useful in order to advance toward the clinic world as the obtained results appear to be still preliminary. Employing metabolomics approaches to understand fetal and perinatal pathophysiology requires further research with larger sample sizes and rigorous testing of pilot studies using various omics and traditional hypothesis-driven experimental approaches.

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Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples

Cited by 12 publications

References 29 publications

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

Identification of Circulating Endocan-1 and Ether Phospholipids as Biomarkers for Complications in Thalassemia Patients

Metabolomics in Prenatal Medicine: A Review

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