Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview
Autism spectrum disorder (ASD) is a genetically heterogeneous syndrome characterized by repetitive, restricted, and stereotyped behaviors, along with persistent difficulties with social interaction and communication. Despite its increasing prevalence globally, the underlying pathogenic mechanisms of...
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2025-04-01
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| author | Claudio Tabolacci Angela Caruso Martina Micai Giulia Galati Carla Lintas Maria Elena Pisanu Maria Luisa Scattoni |
| author_facet | Claudio Tabolacci Angela Caruso Martina Micai Giulia Galati Carla Lintas Maria Elena Pisanu Maria Luisa Scattoni |
| author_sort | Claudio Tabolacci |
| collection | DOAJ |
| description | Autism spectrum disorder (ASD) is a genetically heterogeneous syndrome characterized by repetitive, restricted, and stereotyped behaviors, along with persistent difficulties with social interaction and communication. Despite its increasing prevalence globally, the underlying pathogenic mechanisms of this complex neurodevelopmental disorder remain poorly understood. Therefore, the identification of reliable biomarkers could play a crucial role in enabling early screening and more precise classification of ASD subtypes, offering valuable insights into its physiopathology and aiding the customization of treatment or early interventions. Biogenic amines, including serotonin, histamine, dopamine, epinephrine, norepinephrine, and polyamines, are a class of organic compounds mainly produced by the decarboxylation of amino acids. A substantial portion of the genetic variation observed in ASD has been linked to genes that are either directly or indirectly involved in the metabolism of biogenic amines. Their potential involvement in ASD has become an area of growing interest due to their pleiotropic activities in the central nervous system, where they act as both neurotransmitters and neuromodulators or hormones. This review examines the role of biogenic amines in ASD, with a particular focus on genetic alterations in the enzymes responsible for their synthesis and degradation. |
| format | Article |
| id | doaj-art-17b65e2053584689a58e83f02eff58e3 |
| institution | DOAJ |
| issn | 2218-273X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj-art-17b65e2053584689a58e83f02eff58e32025-08-20T03:14:18ZengMDPI AGBiomolecules2218-273X2025-04-0115453910.3390/biom15040539Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive OverviewClaudio Tabolacci0Angela Caruso1Martina Micai2Giulia Galati3Carla Lintas4Maria Elena Pisanu5Maria Luisa Scattoni6Coordination and Promotion of Research, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, ItalyCoordination and Promotion of Research, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, ItalyCoordination and Promotion of Research, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, ItalyCoordination and Promotion of Research, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, ItalyResearch Unit of Medical Genetics, Department of Medicine and Surgery, University Campus Bio-Medico of Rome, Via Alvaro del Portillo 21, 00128 Rome, ItalyCore Facilities, High Resolution NMR Unit, Istituto Superiore di Sanità, 00161 Rome, ItalyCoordination and Promotion of Research, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, ItalyAutism spectrum disorder (ASD) is a genetically heterogeneous syndrome characterized by repetitive, restricted, and stereotyped behaviors, along with persistent difficulties with social interaction and communication. Despite its increasing prevalence globally, the underlying pathogenic mechanisms of this complex neurodevelopmental disorder remain poorly understood. Therefore, the identification of reliable biomarkers could play a crucial role in enabling early screening and more precise classification of ASD subtypes, offering valuable insights into its physiopathology and aiding the customization of treatment or early interventions. Biogenic amines, including serotonin, histamine, dopamine, epinephrine, norepinephrine, and polyamines, are a class of organic compounds mainly produced by the decarboxylation of amino acids. A substantial portion of the genetic variation observed in ASD has been linked to genes that are either directly or indirectly involved in the metabolism of biogenic amines. Their potential involvement in ASD has become an area of growing interest due to their pleiotropic activities in the central nervous system, where they act as both neurotransmitters and neuromodulators or hormones. This review examines the role of biogenic amines in ASD, with a particular focus on genetic alterations in the enzymes responsible for their synthesis and degradation.https://www.mdpi.com/2218-273X/15/4/539autism spectrum disorderbiogenic aminesmetabolismneurodevelopmental disorders |
| spellingShingle | Claudio Tabolacci Angela Caruso Martina Micai Giulia Galati Carla Lintas Maria Elena Pisanu Maria Luisa Scattoni Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview Biomolecules autism spectrum disorder biogenic amines metabolism neurodevelopmental disorders |
| title | Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview |
| title_full | Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview |
| title_fullStr | Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview |
| title_full_unstemmed | Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview |
| title_short | Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview |
| title_sort | biogenic amine metabolism and its genetic variations in autism spectrum disorder a comprehensive overview |
| topic | autism spectrum disorder biogenic amines metabolism neurodevelopmental disorders |
| url | https://www.mdpi.com/2218-273X/15/4/539 |
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