Barbora Dicka

• Characterisation of IFT140 Protein Defects in Urine-Derived Renal Cells: Mechanisms and Therapeutics
• MSci Biomedical Genetics

ADPKD is an incurable cystic kidney disease that often leads to complete kidney failure necessitating dialysis and ultimately a kidney transplant. DNA analysis of ADPKD patients from the North-East has recently led to the identification of a new form of the disease, known as ADPKD-IFT140. Having identified the gene involved, it is now important to understand how this gene affects kidney cells to improve understanding of the disease and patient management, and to investigate potential treatments. This project analysed kidney cells isolated from urine that were treated with synthetic DNA molecules called antisense oligonucleotides to imitate ADPKD-IFT140 patient’s mutation using high power microscopy and gene analysis and identified some structural abnormalities and gene expression changes. When the cells were treated with a combination of antisense oligonucleotides to correct the mutated gene, the structural abnormalities were partially ameliorated.

Funded by: Newcastle University Research Scholarship

Project Supervisor: Dr Colin Miles