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...

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Bibliographic Details
Published in:Children (Basel) 2022-09, Vol.9 (10), p.1439
Main Authors: Riggs, Edith, Shakkour, Zaynab, Anderson, Christopher L, Carney, Paul R
Format: Article
Language:English
Subjects:
Alzheimer's disease
Child development deviations
Developmental disabilities
genetic disorder
Intellectual disabilities
intellectual disability
Mutation
Nervous system
neurodevelopment
Neurodevelopmental disorders
Neurological disorders
Neurons
Pediatrics
Physiological aspects
Proteins
Review
Sensors
synapse
Synapses
synaptic vesicles
synaptotagmin
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Summary: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.
ISSN:2227-9067
2227-9067
DOI:10.3390/children9101439