Role of Mutations in clustered Protocadherin genes in the altered neurocircuitry of Autism Spectrum Disorder

Brinke, Lars ten (2023) Role of Mutations in clustered Protocadherin genes in the altered neurocircuitry of Autism Spectrum Disorder. Bachelor's Thesis, Biology.

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Abstract

The human brain is composed by a complex network with billions of neurons, each forming synaptic connections with high specificity to ensure correct signal transduction. Deficits in this high specificity and neurocircuitry are frequently associated with several neurodevelopmental disorders, including autism spectrum disorder (ASD). ASD has been a focal point of research and knowledge regarding its development and knowing how deficits in neurocircuitry lead to ASD could potentially pave the way for new therapeutic strategies. In a recent CLARITY study, ladder-like structures were observed in the neurites of the same neuron, indicating that the mechanism ensuring correct cell-cell recognition is impaired in ASD. Correct cell-cell recognition is normally mediated by both clustered (cPCDHs) and non-clustered (ncPCDHs) protocadherins which establish unique neural identities and engage in cell-cell interactions to either promote or terminate binding between neurons. This study aimed to review the exact functioning of these PCDHs in establishing such identities and cell cell recognition, as well as how mutations within these PCDHs or their regulators could contribute to the abnormal neurocircuitry found in ASD. Indeed, we found that some mutations, especially in epigenetic regulation, were associated with ASD etiology. However, the exact mode of how this is mediated is not entirely understood and requires further research.

Item Type:	Thesis (Bachelor's Thesis)
Supervisor name:	Eisel, U.L.M. and Jorna, L.M.
Degree programme:	Biology
Thesis type:	Bachelor's Thesis
Language:	English
Date Deposited:	19 Jul 2023 12:24
Last Modified:	19 Jul 2023 12:24
URI:	https://fse.studenttheses.ub.rug.nl/id/eprint/30775

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