Investigating the role of SNORD116 in cardiac development and disease

Holmes, Terri-Lea (2023) Investigating the role of SNORD116 in cardiac development and disease. Doctoral thesis, University of East Anglia.

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Heart disease is a condition that affects millions of people and contributes to countless deaths worldwide. The underlying pathophysiology is highly complex and involves many intricate cellular processes and elaborate signalling pathways. Non-coding RNA, specifically small nucleolar RNA (snoRNA) has recently been implicated in the pathogenesis of many different human diseases including cardiovascular disease. The snoRNA SNORD116 was recently found at elevated levels in a human induced pluripotent stem cell (hiPSC) model of cardiac disease. SNORD116 has previously been associated with the congenital disease Prader-Willi Syndrome (PWS), where it is implicated in the dysregulation of various cellular, metabolic and developmental pathways.

This work presents the use of hiPSCs as a model of heart development and disease. The focus of this work is to understand the function of SNORD116 in a cardiac context, and to investigate how SNORD116 may influence disease phenotypes. This research indicates that SNORD116 is elevated during key points of cardiomyocyte development, and is dysregulated in response to cardiac stress. SNORD116 was shown to be involved in modulating the metabolism of cells, potentially impacting how they respond to disease stimuli. Moreover, results presented here demonstrate how SNORD116 may directly interact with the mRNA of the desmosomal armadillo protein PKP1, and how this may impact cardiac development and function.

Item Type: Thesis (Doctoral)
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: Chris White
Date Deposited: 22 May 2023 08:16
Last Modified: 22 May 2023 08:16

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