Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the machinery controlling neurotrophin release, bypasses the need for CSB in neuritogenesis. Importantly, brain-derived neurotrophic factor (BDNF), a neurotrophin implicated in neuronal differentiation and synaptic modulation, and pharmacological mimics such as 7,8-dihydroxyflavone and amitriptyline can compensate for CSB deficiency in cell models of neuronal differentiation as well. SYT9 and BDNF are downregulated in CS patient brain tissue, further indicating that sub-optimal neurotrophin signaling underlies neurological defects in CS. In addition to shedding light on cellular mechanisms underlying CS and pointing to future avenues for pharmacological intervention, these data suggest an important role for SYT9 in neuronal differentiation.

OriginalsprogEngelsk
TidsskriftCell Reports
Vol/bind14
Udgave nummer11
Sider (fra-til)2554-2561
Antal sider8
ISSN2211-1247
DOI
StatusUdgivet - 2016
Eksternt udgivetJa

Bibliografisk note

Publisher Copyright:
© 2016 The Authors.

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