Analysis of Gene Targeting Techniques for Huntington’s Disease and Gene Expression in Human Cells

Abstract

Huntington’s disease (HD) is an inherited neurodegenerative disorder that is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene. Our team performed a literature analysis to investigate the current state of research for treating HD and identified a new technology called prime editing that could be applied to HD in combination with single nucleotide polymorphisms (SNPs). We found that at least 729 SNPs within the HTT gene are compatible with our proposed approach. Experimentally, we performed preliminary studies using Western Blots and RT-qPCR to examine the differences in expression of HTT in a variety of cell lines. Our literature-based work suggests that prime editing is a promising tool for addressing the basis of a variety of genetic disorders. Our experimental-based work confirms that human fibroblast cells express HTT and therefore may be used in proof of concept studies of gene targeting techniques to address HD.