Published October 21, 2019 | Version V1.0
Poster Open

Characterization of the activity-dependent development of IPSC-derived neurons from Fragile X patients

  • 1. MNI, McGill University


Fragile X syndrome is a form of syndromic autism whose genetic causes have been relatively well uncovered. It is
actually mainly caused by a CGG triplet expansion in the 5’ UTR sequence of FMR1 gene, affecting mostly men. FMR1
encodes a mRNA binding protein which is involved in the regulation of local translation at the synaptic level. The
mechanisms leading from such gene mutations to a neurodevelopmental disorder still need to be investigated. While
several studies have shown that the neuronal development is driven by cellular activity and connectivity, we aim to
further investigate the effect of FMR1 repression on the neuronal activity taking advantage of IPSC-derived neurons
from patient’s cells. IPSC-derived neurons will be investigated through calcium imaging to characterized their pattern
of spontaneous activities, as well as their capability to respond to neurotransmitter through extra-synaptic receptors.
A multielectrode array approach is going to be used to analyse the overall network activities. Those studies should
provide further information on the impairment of activity-dependent neuronal development in Fragile X syndrome.



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