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Title: Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.
Author: 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, Maria Luz
Sierra, Cristina
Ormazabal Herrero, Aida
Batllori, Marta
Artuch Iriberri, Rafael
Armstrong, Judith
Alcántara Horrillo, Soledad
Garcia-Cazorla, Àngels
Keywords: Errors congènits del metabolisme
Lesions cerebrals
Inborn errors of metabolism
Amino acids
Brain damage
Issue Date: 24-Jun-2019
Publisher: Nature Publishing Group
Abstract: 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.
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It is part of: Scientific Reports, 2019, vol. 9, p. 9128
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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