Poster Open Access

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

Maussion, Gilles; Rocha, Cecilia; Soubannier, Vincent


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