Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.

Abstract:

:The activity-dependent fusion, retrieval and recycling of synaptic vesicles is essential for the maintenance of neurotransmission. Until relatively recently it was believed that most mutations in genes that were essential for this process would be incompatible with life, because of this fundamental role. However, an ever-expanding number of mutations in this very cohort of genes are being identified in individuals with neurodevelopmental disorders, including autism, intellectual disability and epilepsy. This article will summarize the current state of knowledge linking mutations in presynaptic genes to neurodevelopmental disorders by sequentially covering the various stages of the synaptic vesicle life cycle. It will also discuss how perturbations of specific stages within this recycling process could translate into human disease. Finally, it will also provide perspectives on the potential for future therapy that are targeted to presynaptic function.

journal_name

J Neurochem

authors

Bonnycastle K,Davenport EC,Cousin MA

doi

10.1111/jnc.15035

subject

Has Abstract

pub_date

2020-05-07 00:00:00

eissn

0022-3042

issn

1471-4159

pub_type

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