Characterisation of PTCD1 and CRYAB variants in rare and mitochondrial disease pathogenesis using gene editing
Mitochondrial diseases are highly complex, debilitating conditions impacting 1 in every 6,000 to 8,000 live births. Investigation of patient variants by generating cellular models is vital to a timely and accurate diagnosis. This thesis demonstrates the first instance of combining prime editing syst...
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| Format: | Thesis |
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Curtin University
2024
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| Online Access: | http://hdl.handle.net/20.500.11937/96637 |
| Summary: | Mitochondrial diseases are highly complex, debilitating conditions impacting 1 in every 6,000 to 8,000 live births. Investigation of patient variants by generating cellular models is vital to a timely and accurate diagnosis. This thesis demonstrates the first instance of combining prime editing systems with engineered pegRNAs into one plasmid for delivery into mammalian cells, identified the first disease-causing variant in PTCD1, and characterised three variants in CRYAB to investigate contribution to mitochondrial disease and dysfunction. |
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