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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    "description": "<p>Fragile X syndrome is a form of syndromic autism whose genetic causes have been relatively well uncovered. It is<br>\nactually mainly caused by a CGG triplet expansion in the 5&rsquo; UTR sequence of FMR1 gene, affecting mostly men. FMR1<br>\nencodes a mRNA binding protein which is involved in the regulation of local translation at the synaptic level. The<br>\nmechanisms leading from such gene mutations to a neurodevelopmental disorder still need to be investigated. While<br>\nseveral studies have shown that the neuronal development is driven by cellular activity and connectivity, we aim to<br>\nfurther investigate the effect of FMR1 repression on the neuronal activity taking advantage of IPSC-derived neurons<br>\nfrom patient&rsquo;s cells. IPSC-derived neurons will be investigated through calcium imaging to characterized their pattern<br>\nof spontaneous activities, as well as their capability to respond to neurotransmitter through extra-synaptic receptors.<br>\nA multielectrode array approach is going to be used to analyse the overall network activities. Those studies should<br>\nprovide further information on the impairment of activity-dependent neuronal development in Fragile X syndrome.</p>", 
    "language": "eng", 
    "title": "Characterization of the activity-dependent development of IPSC-derived neurons from Fragile X patients", 
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    "keywords": [
      "induced pluripotent stem cells", 
      "cortical neurons", 
      "Fragile X", 
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    "publication_date": "2019-10-21", 
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        "affiliation": "MNI, McGill University", 
        "name": "Rocha, Cecilia"
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        "affiliation": "MNI, McGill University", 
        "name": "Soubannier, Vincent"
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