Functional characterisation of excitatory neurons (360G-Wellcome-207107_Z_17_Z)

Autism spectrum disorder (ASD) is a complex, neurodevelopmental disorder characterised by deficits in social and communication skills, language delay and repetitive or stereotypical behaviour. A variety of copy number variations have been identified that play a role in ASD, including the Neurexin1 gene (NRXN1) which encodes a family of presynaptic cell adhesion transmembrane proteins, vital for neurotransmission and synapse differentiation. It is widely accepted that neurexin and mutations disturb the balance between excitatory (alpha- and beta-nrxn) and inhibitory (mainly alpha-isoform) synaptic activity that is thought to be critical in the pathology in ASD. The seminal discovery that somatic cells can be reprogrammed to produce induced pluripotent stem cells (IPSCs) has revolutionised biological research and medicine. The ability to differentiate these IPSCs into neural cells offers a tremendous opportunity to study disease modelling associated with impaired neuronal cell biology. In this study we will characterise the functional firing properties of IPSc derived glutaminergic neurons differentiated from normal controls and patients carrying a NRXN1 mutation. Functional properties will be assessed by patch clamp examining voltage gated sodium and potassium channels and action potential firing properties under current clamp conditions. This work will be essential to aiding our understanding of ASD.

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Grant Details

Amount Awarded 0
Applicant Surname Shally
Approval Committee Internal Decision Panel
Award Date 2017-04-27T00:00:00+00:00
Financial Year 2016/17
Grant Programme: Title Vacation Scholarships
Internal ID 207107/Z/17/Z
Lead Applicant Ms Alice Shally
Partnership Value 0
Planned Dates: End Date 2017-08-04T00:00:00+00:00
Planned Dates: Start Date 2017-06-05T00:00:00+00:00
Recipient Org: Country Ireland
Region Ireland