Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children
Autor(a) principal: | |
---|---|
Data de Publicação: | 2021 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10773/31297 |
Resumo: | Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy children (CT) was analysed by HILIC-MS/MS and GC-MS. Using this approach, 187 lipid species belonging to 9 different phospholipid classes and 3 ceramides were identified. Principal component analysis of the lipid species dataset showed a distinction between PKU and CT groups. Univariate analysis revealed that 146 species of phospholipids were significantly different between both groups. Lipid species showing significant variation included phosphatidylcholines, containing polyunsaturated fatty acids (PUFA), which were more abundant in PKU. The high level of PUFA-containing lipid species in children with PKU may be related to a diet supplemented with PUFA. This study was the first report comparing the plasma polar lipidome of PKU and healthy children, highlighting that the phospholipidome of PKU children is significantly altered compared to CT. However, further studies with larger cohorts are needed to clarify whether these changes are specific to phenylketonuric children. |
id |
RCAP_4f1c95580792c3a071795cd4a103163a |
---|---|
oai_identifier_str |
oai:ria.ua.pt:10773/31297 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy childrenInborn errors of metabolismPhenylketonuriaPlasmaLipidomicsMass spectrometryPhospholipidsPhenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy children (CT) was analysed by HILIC-MS/MS and GC-MS. Using this approach, 187 lipid species belonging to 9 different phospholipid classes and 3 ceramides were identified. Principal component analysis of the lipid species dataset showed a distinction between PKU and CT groups. Univariate analysis revealed that 146 species of phospholipids were significantly different between both groups. Lipid species showing significant variation included phosphatidylcholines, containing polyunsaturated fatty acids (PUFA), which were more abundant in PKU. The high level of PUFA-containing lipid species in children with PKU may be related to a diet supplemented with PUFA. This study was the first report comparing the plasma polar lipidome of PKU and healthy children, highlighting that the phospholipidome of PKU children is significantly altered compared to CT. However, further studies with larger cohorts are needed to clarify whether these changes are specific to phenylketonuric children.American Chemical Society2022-04-04T00:00:00Z2021-04-05T00:00:00Z2021-04-05info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10773/31297eng1535-3893https://doi.org/10.1021/acs.jproteome.0c01052Guerra, Inês M. S.Diogo, LuísaPinho, MarisaMelo, TâniaDomingues, PedroDomingues, M. RosárioMoreira, Ana S. P.info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-02-22T12:00:24Zoai:ria.ua.pt:10773/31297Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:03:12.584980Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
title |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
spellingShingle |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children Guerra, Inês M. S. Inborn errors of metabolism Phenylketonuria Plasma Lipidomics Mass spectrometry Phospholipids |
title_short |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
title_full |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
title_fullStr |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
title_full_unstemmed |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
title_sort |
Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children |
author |
Guerra, Inês M. S. |
author_facet |
Guerra, Inês M. S. Diogo, Luísa Pinho, Marisa Melo, Tânia Domingues, Pedro Domingues, M. Rosário Moreira, Ana S. P. |
author_role |
author |
author2 |
Diogo, Luísa Pinho, Marisa Melo, Tânia Domingues, Pedro Domingues, M. Rosário Moreira, Ana S. P. |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Guerra, Inês M. S. Diogo, Luísa Pinho, Marisa Melo, Tânia Domingues, Pedro Domingues, M. Rosário Moreira, Ana S. P. |
dc.subject.por.fl_str_mv |
Inborn errors of metabolism Phenylketonuria Plasma Lipidomics Mass spectrometry Phospholipids |
topic |
Inborn errors of metabolism Phenylketonuria Plasma Lipidomics Mass spectrometry Phospholipids |
description |
Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy children (CT) was analysed by HILIC-MS/MS and GC-MS. Using this approach, 187 lipid species belonging to 9 different phospholipid classes and 3 ceramides were identified. Principal component analysis of the lipid species dataset showed a distinction between PKU and CT groups. Univariate analysis revealed that 146 species of phospholipids were significantly different between both groups. Lipid species showing significant variation included phosphatidylcholines, containing polyunsaturated fatty acids (PUFA), which were more abundant in PKU. The high level of PUFA-containing lipid species in children with PKU may be related to a diet supplemented with PUFA. This study was the first report comparing the plasma polar lipidome of PKU and healthy children, highlighting that the phospholipidome of PKU children is significantly altered compared to CT. However, further studies with larger cohorts are needed to clarify whether these changes are specific to phenylketonuric children. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-04-05T00:00:00Z 2021-04-05 2022-04-04T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10773/31297 |
url |
http://hdl.handle.net/10773/31297 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1535-3893 https://doi.org/10.1021/acs.jproteome.0c01052 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/embargoedAccess |
eu_rights_str_mv |
embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
American Chemical Society |
publisher.none.fl_str_mv |
American Chemical Society |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799137687061397504 |