Cargando…

Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples

Background: Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to...

Descripción completa

Detalles Bibliográficos
Autores principales: Monni, Giovanni, Murgia, Federica, Corda, Valentina, Peddes, Cristina, Iuculano, Ambra, Tronci, Laura, Balsamo, Antonella, Atzori, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616561/
https://www.ncbi.nlm.nih.gov/pubmed/31195667
http://dx.doi.org/10.3390/jcm8060798
_version_ 1783433534968430592
author Monni, Giovanni
Murgia, Federica
Corda, Valentina
Peddes, Cristina
Iuculano, Ambra
Tronci, Laura
Balsamo, Antonella
Atzori, Luigi
author_facet Monni, Giovanni
Murgia, Federica
Corda, Valentina
Peddes, Cristina
Iuculano, Ambra
Tronci, Laura
Balsamo, Antonella
Atzori, Luigi
author_sort Monni, Giovanni
collection PubMed
description Background: Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples of fetuses affected by β-thalassemia compared to a control group by applying a metabolomics approach. Methods: Chorionic villi samples were differentiated according to the genetic diagnosis of β-thalassemia: control (Group 1, n = 27); heterozygous (Group 2, n = 7); homozygous (Group 3, n = 7). Gas chromatography–mass spectrometry was used to detect the metabolic composition of the samples. Subsequently, multivariate and univariate statistical analysis was performed. The discriminant metabolites were used to identify the altered pathways. Results: Supervised multivariate models were devised to compare the groups. The model resulting from the comparison between Group 1 and Group 3 was the most significant. Discriminant metabolites were identified, and the most altered pathways were as follows: pentose phosphate pathway (PPP), arachidonic acid metabolism, glycolysis, and gluconeogenesis, suggesting the presence of an energetic shift toward the PPP and the presence of oxidative stress in β-thalassemia chorionic villi samples. Conclusions: The metabolomics approach identified a specific metabolic fingerprint in chorionic villi of fetuses affected by β-thalassemia.
format Online
Article
Text
id pubmed-6616561
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-66165612019-07-18 Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples Monni, Giovanni Murgia, Federica Corda, Valentina Peddes, Cristina Iuculano, Ambra Tronci, Laura Balsamo, Antonella Atzori, Luigi J Clin Med Article Background: Beta-thalassemias are blood disorders characterized by poorly understood clinical phenotypes ranging from asymptomatic to severe anemia. Metabolic composition of the human placenta could be affected by the presence of pathological states such as β-thalassemia. The aim of our study was to describe metabolic changes in chorionic villi samples of fetuses affected by β-thalassemia compared to a control group by applying a metabolomics approach. Methods: Chorionic villi samples were differentiated according to the genetic diagnosis of β-thalassemia: control (Group 1, n = 27); heterozygous (Group 2, n = 7); homozygous (Group 3, n = 7). Gas chromatography–mass spectrometry was used to detect the metabolic composition of the samples. Subsequently, multivariate and univariate statistical analysis was performed. The discriminant metabolites were used to identify the altered pathways. Results: Supervised multivariate models were devised to compare the groups. The model resulting from the comparison between Group 1 and Group 3 was the most significant. Discriminant metabolites were identified, and the most altered pathways were as follows: pentose phosphate pathway (PPP), arachidonic acid metabolism, glycolysis, and gluconeogenesis, suggesting the presence of an energetic shift toward the PPP and the presence of oxidative stress in β-thalassemia chorionic villi samples. Conclusions: The metabolomics approach identified a specific metabolic fingerprint in chorionic villi of fetuses affected by β-thalassemia. MDPI 2019-06-05 /pmc/articles/PMC6616561/ /pubmed/31195667 http://dx.doi.org/10.3390/jcm8060798 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Monni, Giovanni
Murgia, Federica
Corda, Valentina
Peddes, Cristina
Iuculano, Ambra
Tronci, Laura
Balsamo, Antonella
Atzori, Luigi
Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples
title Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples
title_full Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples
title_fullStr Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples
title_full_unstemmed Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples
title_short Metabolomic Investigation of β-Thalassemia in Chorionic Villi Samples
title_sort metabolomic investigation of β-thalassemia in chorionic villi samples
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616561/
https://www.ncbi.nlm.nih.gov/pubmed/31195667
http://dx.doi.org/10.3390/jcm8060798
work_keys_str_mv AT monnigiovanni metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT murgiafederica metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT cordavalentina metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT peddescristina metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT iuculanoambra metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT troncilaura metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT balsamoantonella metabolomicinvestigationofbthalassemiainchorionicvillisamples
AT atzoriluigi metabolomicinvestigationofbthalassemiainchorionicvillisamples