Cargando…

SYT1-Associated Neurodevelopmental Disorder: A Narrative Review

Synaptic dysregulations often result in damaging effects on the central nervous system, resulting in a wide range of brain and neurodevelopment disorders that are caused by mutations disrupting synaptic proteins. SYT1, an identified synaptotagmin protein, plays an essential role in mediating the rel...

Descripción completa

Detalles Bibliográficos
Autores principales: Riggs, Edith, Shakkour, Zaynab, Anderson, Christopher L., Carney, Paul R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601251/
https://www.ncbi.nlm.nih.gov/pubmed/36291375
http://dx.doi.org/10.3390/children9101439
_version_ 1784817013278900224
author Riggs, Edith
Shakkour, Zaynab
Anderson, Christopher L.
Carney, Paul R.
author_facet Riggs, Edith
Shakkour, Zaynab
Anderson, Christopher L.
Carney, Paul R.
author_sort Riggs, Edith
collection PubMed
description Synaptic dysregulations often result in damaging effects on the central nervous system, resulting in a wide range of brain and neurodevelopment disorders that are caused by mutations disrupting synaptic proteins. SYT1, an identified synaptotagmin protein, plays an essential role in mediating the release of calcium-triggered neurotransmitters (NT) involved in regular synaptic vesicle exocytosis. Considering the significant role of SYT1 in the physiology of synaptic neurotransmission, dysfunction and degeneration of this protein can result in a severe neurological impairment. Genetic variants lead to a newly discovered rare disorder, known as SYT1-associated neurodevelopment disorder. In this review, we will discuss in depth the function of SYT1 in synapse and the underlying molecular mechanisms. We will highlight the genetic basis of SYT1-associated neurodevelopmental disorder along with known phenotypes, with possible interventions and direction of research.
format Online
Article
Text
id pubmed-9601251
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-96012512022-10-27 SYT1-Associated Neurodevelopmental Disorder: A Narrative Review Riggs, Edith Shakkour, Zaynab Anderson, Christopher L. Carney, Paul R. Children (Basel) Review Synaptic dysregulations often result in damaging effects on the central nervous system, resulting in a wide range of brain and neurodevelopment disorders that are caused by mutations disrupting synaptic proteins. SYT1, an identified synaptotagmin protein, plays an essential role in mediating the release of calcium-triggered neurotransmitters (NT) involved in regular synaptic vesicle exocytosis. Considering the significant role of SYT1 in the physiology of synaptic neurotransmission, dysfunction and degeneration of this protein can result in a severe neurological impairment. Genetic variants lead to a newly discovered rare disorder, known as SYT1-associated neurodevelopment disorder. In this review, we will discuss in depth the function of SYT1 in synapse and the underlying molecular mechanisms. We will highlight the genetic basis of SYT1-associated neurodevelopmental disorder along with known phenotypes, with possible interventions and direction of research. MDPI 2022-09-22 /pmc/articles/PMC9601251/ /pubmed/36291375 http://dx.doi.org/10.3390/children9101439 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Riggs, Edith
Shakkour, Zaynab
Anderson, Christopher L.
Carney, Paul R.
SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
title SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
title_full SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
title_fullStr SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
title_full_unstemmed SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
title_short SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
title_sort syt1-associated neurodevelopmental disorder: a narrative review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601251/
https://www.ncbi.nlm.nih.gov/pubmed/36291375
http://dx.doi.org/10.3390/children9101439
work_keys_str_mv AT riggsedith syt1associatedneurodevelopmentaldisorderanarrativereview
AT shakkourzaynab syt1associatedneurodevelopmentaldisorderanarrativereview
AT andersonchristopherl syt1associatedneurodevelopmentaldisorderanarrativereview
AT carneypaulr syt1associatedneurodevelopmentaldisorderanarrativereview