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SYT1-Associated Neurodevelopmental Disorder: A Narrative Review
- Source :
- Children, Vol 9, Iss 10, p 1439 (2022)
- Publication Year :
- 2022
- Publisher :
- MDPI AG, 2022.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 22279067
- Volume :
- 9
- Issue :
- 10
- Database :
- Directory of Open Access Journals
- Journal :
- Children
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.631cd361a50540d5adeb89e5781c3a05
- Document Type :
- article
- Full Text :
- https://doi.org/10.3390/children9101439