Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social interactions, communication, and behavior. Although the predominant genetic predisposition to ASD seems beyond doubt, its exact nature remains unclear. In the context of social cognition disorders and the bas...
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MDPI AG
2023-10-01
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| Series: | Current Issues in Molecular Biology |
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| Online Access: | https://www.mdpi.com/1467-3045/45/10/527 |
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| author | Krzysztof Maria Wilczyński Aleksandra Auguściak-Duma Aleksandra Stasik Lena Cichoń Alicja Kawalec Małgorzata Janas-Kozik |
| author_facet | Krzysztof Maria Wilczyński Aleksandra Auguściak-Duma Aleksandra Stasik Lena Cichoń Alicja Kawalec Małgorzata Janas-Kozik |
| author_sort | Krzysztof Maria Wilczyński |
| collection | DOAJ |
| description | Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social interactions, communication, and behavior. Although the predominant genetic predisposition to ASD seems beyond doubt, its exact nature remains unclear. In the context of social cognition disorders and the basis of ASD, the oxytocinergic and vasopresynergic systems arouse great interest among researchers. The aim of the present study was to analyze gene expression levels for oxytocin and vasopressin receptors, as well as CD38 protein and oxytocinase, in the context of the clinical picture of autism spectrum disorders. The study included 90 people, of whom 63 were diagnosed with ASD based on anamnesis, mental status testing, and the ADOS-2 protocol. The results obtained in the presented study indicate that the balance between the levels of expression of the CD38 gene and the oxytocinase gene plays a key role in the risk and clinical presentation of ASD. In a hypothetical scenario, an imbalance in the expression of CD38 and LNPEP could potentially lead to alterations in the concentrations of oxytocin and vasopressin. At the same time, the most frequently studied genes—AVPR1a and OXTR—seem to be at best of marginal importance for the risk of ASD. |
| first_indexed | 2024-03-10T21:20:49Z |
| format | Article |
| id | doaj.art-95fddfd548454ff1b28deef464c96b9a |
| institution | Directory Open Access Journal |
| issn | 1467-3037 1467-3045 |
| language | English |
| last_indexed | 2024-03-10T21:20:49Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Issues in Molecular Biology |
| spelling | doaj.art-95fddfd548454ff1b28deef464c96b9a2023-11-19T16:06:46ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452023-10-0145108359837110.3390/cimb45100527Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum DisorderKrzysztof Maria Wilczyński0Aleksandra Auguściak-Duma1Aleksandra Stasik2Lena Cichoń3Alicja Kawalec4Małgorzata Janas-Kozik5Department of Developmental Age Psychiatry and Psychotherapy, Medical University of Silesia, 40-061 Katowice, PolandDepartment of Molecular Biology and Genetics, Medical University of Silesia, 40-061 Katowice, PolandJohn Paul II Children’s and Family Health Center in Sosnowiec sp. z o.o., Gabrieli Zapolskiej 3, 41-218 Sosnowiec, PolandDepartment of Developmental Age Psychiatry and Psychotherapy, Medical University of Silesia, 40-061 Katowice, PolandDepartment of Developmental Age Psychiatry and Psychotherapy, Medical University of Silesia, 40-061 Katowice, PolandDepartment of Developmental Age Psychiatry and Psychotherapy, Medical University of Silesia, 40-061 Katowice, PolandAutism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social interactions, communication, and behavior. Although the predominant genetic predisposition to ASD seems beyond doubt, its exact nature remains unclear. In the context of social cognition disorders and the basis of ASD, the oxytocinergic and vasopresynergic systems arouse great interest among researchers. The aim of the present study was to analyze gene expression levels for oxytocin and vasopressin receptors, as well as CD38 protein and oxytocinase, in the context of the clinical picture of autism spectrum disorders. The study included 90 people, of whom 63 were diagnosed with ASD based on anamnesis, mental status testing, and the ADOS-2 protocol. The results obtained in the presented study indicate that the balance between the levels of expression of the CD38 gene and the oxytocinase gene plays a key role in the risk and clinical presentation of ASD. In a hypothetical scenario, an imbalance in the expression of CD38 and LNPEP could potentially lead to alterations in the concentrations of oxytocin and vasopressin. At the same time, the most frequently studied genes—AVPR1a and OXTR—seem to be at best of marginal importance for the risk of ASD.https://www.mdpi.com/1467-3045/45/10/527oxytocinexpressionautism |
| spellingShingle | Krzysztof Maria Wilczyński Aleksandra Auguściak-Duma Aleksandra Stasik Lena Cichoń Alicja Kawalec Małgorzata Janas-Kozik Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder Current Issues in Molecular Biology oxytocin expression autism |
| title | Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder |
| title_full | Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder |
| title_fullStr | Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder |
| title_full_unstemmed | Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder |
| title_short | Association of <i>OXTR</i>, <i>AVPR1a</i>, <i>LNPEP</i>, and <i>CD38</i> Genes’ Expression with the Clinical Presentation of Autism Spectrum Disorder |
| title_sort | association of i oxtr i i avpr1a i i lnpep i and i cd38 i genes expression with the clinical presentation of autism spectrum disorder |
| topic | oxytocin expression autism |
| url | https://www.mdpi.com/1467-3045/45/10/527 |
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