Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.

Castells, Aina-Alba; Gueraldi, Daniela; Balada Caballé, Rafael; Tristán Noguero, Alba; Cortès i Saladelafont, Elisenda; Ramos, Federico; Meavilla, Silvia; De Los Santos, Mariela; Garcia-Volpe, Camila; Colomé, Roser; Couce, María Luz; Sierra, Cristina; Ormazabal Herrero, Aida; Batllori, Marta; Artuch Iriberri, Rafael; Armstrong, Judith; Alcántara Horrillo, Soledad; Garcia-Cazorla, Àngels

Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.

Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10...

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Autores:	Castells, Aina-Alba, Gueraldi, Daniela, Balada Caballé, Rafael, Tristán Noguero, Alba, Cortès i Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, María Luz, Sierra, Cristina, Ormazabal Herrero, Aida, Batllori, Marta, Artuch Iriberri, Rafael, Armstrong, Judith, Alcántara Horrillo, Soledad, Garcia-Cazorla, Àngels
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2019
País:	España
Institución:	Universidad de Barcelona
Repositorio:	Dipòsit Digital de la UB
OAI Identifier:	oai:diposit.ub.edu:2445/162604
Acceso en línea:	https://hdl.handle.net/2445/162604
Access Level:	acceso abierto
Palabra clave:	Errors congènits del metabolisme Aminoàcids Neuropsiquiatria Lesions cerebrals Inborn errors of metabolism Amino acids Neuropsychiatry Brain damage

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spelling	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.Castells, Aina-AlbaGueraldi, DanielaBalada Caballé, RafaelTristán Noguero, AlbaCortès i Saladelafont, ElisendaRamos, FedericoMeavilla, SilviaDe Los Santos, MarielaGarcia-Volpe, CamilaColomé, RoserCouce, María LuzSierra, CristinaOrmazabal Herrero, AidaBatllori, MartaArtuch Iriberri, RafaelArmstrong, JudithAlcántara Horrillo, SoledadGarcia-Cazorla, ÀngelsErrors congènits del metabolismeAminoàcidsNeuropsiquiatriaLesions cerebralsInborn errors of metabolismAmino acidsNeuropsychiatryBrain damagePatients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma and blood of patients with Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) and controls. Receiver-operating characteristic (ROC) analysis was used to evaluate sensitivity and specificity of potential biomarkers. CACNA2D2 (α2δ2 subunit of voltage-gated calcium channels) and MECP2 (methyl-CpG binding protein 2) mRNA and protein showed an excellent neural function biomarker signature (AUC ≥ 0,925) for recognition of MSUD. THBS3 (thrombospondin 3) mRNA and AABA gave a very good biomarker signature (AUC 0,911) for executive-attention deficits. THBS3, LIN28A mRNA, and alanine showed a perfect biomarker signature (AUC 1) for behavioral and mood disorders. Finally, a panel of BDNF protein and at least two large neural AAs showed a perfect biomarker signature (AUC 1) for recognition of psychomotor delay, pointing to excessive protein restriction as central causative of psychomotor delay. To conclude, our study has identified promising biomarker panels for neural function evaluation, providing a base for future studies with larger samples.Nature Publishing Group2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/162604Articles publicats en revistes (Patologia i Terapèutica Experimental)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1038/s41598-019-45674-2Scientific Reports, 2019, vol. 9, p. 9128https://doi.org/10.1038/s41598-019-45674-2cc-by (c) Castells, Aina-Alba et al., 2019http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1626042026-05-27T06:46:51Z
dc.title.none.fl_str_mv	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
title	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
spellingShingle	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism. Castells, Aina-Alba Errors congènits del metabolisme Aminoàcids Neuropsiquiatria Lesions cerebrals Inborn errors of metabolism Amino acids Neuropsychiatry Brain damage
title_short	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
title_full	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
title_fullStr	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
title_full_unstemmed	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
title_sort	Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
dc.creator.none.fl_str_mv	Castells, Aina-Alba Gueraldi, Daniela Balada Caballé, Rafael Tristán Noguero, Alba Cortès i Saladelafont, Elisenda Ramos, Federico Meavilla, Silvia De Los Santos, Mariela Garcia-Volpe, Camila Colomé, Roser Couce, María Luz Sierra, Cristina Ormazabal Herrero, Aida Batllori, Marta Artuch Iriberri, Rafael Armstrong, Judith Alcántara Horrillo, Soledad Garcia-Cazorla, Àngels
author	Castells, Aina-Alba
author_facet	Castells, Aina-Alba Gueraldi, Daniela Balada Caballé, Rafael Tristán Noguero, Alba Cortès i Saladelafont, Elisenda Ramos, Federico Meavilla, Silvia De Los Santos, Mariela Garcia-Volpe, Camila Colomé, Roser Couce, María Luz Sierra, Cristina Ormazabal Herrero, Aida Batllori, Marta Artuch Iriberri, Rafael Armstrong, Judith Alcántara Horrillo, Soledad Garcia-Cazorla, Àngels
author_role	author
author2	Gueraldi, Daniela Balada Caballé, Rafael Tristán Noguero, Alba Cortès i Saladelafont, Elisenda Ramos, Federico Meavilla, Silvia De Los Santos, Mariela Garcia-Volpe, Camila Colomé, Roser Couce, María Luz Sierra, Cristina Ormazabal Herrero, Aida Batllori, Marta Artuch Iriberri, Rafael Armstrong, Judith Alcántara Horrillo, Soledad Garcia-Cazorla, Àngels
author2_role	author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Errors congènits del metabolisme Aminoàcids Neuropsiquiatria Lesions cerebrals Inborn errors of metabolism Amino acids Neuropsychiatry Brain damage
topic	Errors congènits del metabolisme Aminoàcids Neuropsiquiatria Lesions cerebrals Inborn errors of metabolism Amino acids Neuropsychiatry Brain damage
description	Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma and blood of patients with Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) and controls. Receiver-operating characteristic (ROC) analysis was used to evaluate sensitivity and specificity of potential biomarkers. CACNA2D2 (α2δ2 subunit of voltage-gated calcium channels) and MECP2 (methyl-CpG binding protein 2) mRNA and protein showed an excellent neural function biomarker signature (AUC ≥ 0,925) for recognition of MSUD. THBS3 (thrombospondin 3) mRNA and AABA gave a very good biomarker signature (AUC 0,911) for executive-attention deficits. THBS3, LIN28A mRNA, and alanine showed a perfect biomarker signature (AUC 1) for behavioral and mood disorders. Finally, a panel of BDNF protein and at least two large neural AAs showed a perfect biomarker signature (AUC 1) for recognition of psychomotor delay, pointing to excessive protein restriction as central causative of psychomotor delay. To conclude, our study has identified promising biomarker panels for neural function evaluation, providing a base for future studies with larger samples.
publishDate	2019
dc.date.none.fl_str_mv	2019
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	https://hdl.handle.net/2445/162604
url	https://hdl.handle.net/2445/162604
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	Reproducció del document publicat a: https://doi.org/10.1038/s41598-019-45674-2 Scientific Reports, 2019, vol. 9, p. 9128 https://doi.org/10.1038/s41598-019-45674-2
dc.rights.none.fl_str_mv	cc-by (c) Castells, Aina-Alba et al., 2019 http://creativecommons.org/licenses/by/3.0/es info:eu-repo/semantics/openAccess
rights_invalid_str_mv	cc-by (c) Castells, Aina-Alba et al., 2019 http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	Nature Publishing Group
publisher.none.fl_str_mv	Nature Publishing Group
dc.source.none.fl_str_mv	Articles publicats en revistes (Patologia i Terapèutica Experimental) reponame:Dipòsit Digital de la UB instname:Universidad de Barcelona
instname_str	Universidad de Barcelona
reponame_str	Dipòsit Digital de la UB
collection	Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.

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