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Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review
Williams Syndrome (WS) is a rare genetic multisystem disorder that occurs because of a deletion of approximately 25 genes in the 7q11.23 chromosome region. This causes dysmorphic facial appearances, multiple congenital cardiovascular defects, delayed motor skills, and abnormalities in connective tis...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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YJBM
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686774/ https://www.ncbi.nlm.nih.gov/pubmed/34970101 |
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author | Çalışkan, Elif Şahin, Munise Nur Güldağ, Mahmut Alper |
author_facet | Çalışkan, Elif Şahin, Munise Nur Güldağ, Mahmut Alper |
author_sort | Çalışkan, Elif |
collection | PubMed |
description | Williams Syndrome (WS) is a rare genetic multisystem disorder that occurs because of a deletion of approximately 25 genes in the 7q11.23 chromosome region. This causes dysmorphic facial appearances, multiple congenital cardiovascular defects, delayed motor skills, and abnormalities in connective tissues and the endocrine system. The patients are mostly diagnosed with mild to moderate mental retardation, however, they have a hyper sociable, socially dis-inhibited, and outgoing personality, empathetic behavior, and are highly talkative. Oxytocin (OT), a neuropeptide synthesized at the hypothalamus, plays an important role in cognition and behavior, and is thought to be affecting WS patients’ attitudes at its different amounts. Oxytocin receptor gene (OXTR), on chromosome 3p25.3, is considered regulating oxytocin receptors, via which OT exerts its effect. WS is a crucial disorder to understand gene, hormone, brain, and behavior associations in terms of sociality and neuropsychiatric conditions. Alterations to the WS gene region offer an opportunity to deepen our understandings of autism spectrum disorder, schizophrenia, anxiety, or depression. We aim to systematically present the data available of OT/OXTR regulation and expression, and the evidence for whether these mechanisms are dysregulated in WS. These results are important, as they predict strong epigenetic control over social behavior by methylation, single nucleotide polymorphisms, and other alterations. The comparison and collaboration of these studies may help to establish a better treatment or management approach for patients with WS if backed up with future research. |
format | Online Article Text |
id | pubmed-8686774 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | YJBM |
record_format | MEDLINE/PubMed |
spelling | pubmed-86867742021-12-29 Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review Çalışkan, Elif Şahin, Munise Nur Güldağ, Mahmut Alper Yale J Biol Med Review Williams Syndrome (WS) is a rare genetic multisystem disorder that occurs because of a deletion of approximately 25 genes in the 7q11.23 chromosome region. This causes dysmorphic facial appearances, multiple congenital cardiovascular defects, delayed motor skills, and abnormalities in connective tissues and the endocrine system. The patients are mostly diagnosed with mild to moderate mental retardation, however, they have a hyper sociable, socially dis-inhibited, and outgoing personality, empathetic behavior, and are highly talkative. Oxytocin (OT), a neuropeptide synthesized at the hypothalamus, plays an important role in cognition and behavior, and is thought to be affecting WS patients’ attitudes at its different amounts. Oxytocin receptor gene (OXTR), on chromosome 3p25.3, is considered regulating oxytocin receptors, via which OT exerts its effect. WS is a crucial disorder to understand gene, hormone, brain, and behavior associations in terms of sociality and neuropsychiatric conditions. Alterations to the WS gene region offer an opportunity to deepen our understandings of autism spectrum disorder, schizophrenia, anxiety, or depression. We aim to systematically present the data available of OT/OXTR regulation and expression, and the evidence for whether these mechanisms are dysregulated in WS. These results are important, as they predict strong epigenetic control over social behavior by methylation, single nucleotide polymorphisms, and other alterations. The comparison and collaboration of these studies may help to establish a better treatment or management approach for patients with WS if backed up with future research. YJBM 2021-12-29 /pmc/articles/PMC8686774/ /pubmed/34970101 Text en Copyright ©2021, Yale Journal of Biology and Medicine https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons CC BY-NC license, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited. You may not use the material for commercial purposes. |
spellingShingle | Review Çalışkan, Elif Şahin, Munise Nur Güldağ, Mahmut Alper Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review |
title | Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome:
A Systematic Review |
title_full | Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome:
A Systematic Review |
title_fullStr | Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome:
A Systematic Review |
title_full_unstemmed | Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome:
A Systematic Review |
title_short | Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome:
A Systematic Review |
title_sort | oxytocin and oxytocin receptor gene regulation in williams syndrome:
a systematic review |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686774/ https://www.ncbi.nlm.nih.gov/pubmed/34970101 |
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