The transfer of mitochondria into embryo cells using micromanipulation

Abstract

In order to address the potential long term prospects of gene therapy for some mitochondrial based diseases, it has been suggested that one approach would be to manipulate the mitochondrial DNA (mtDNA) in vitro, prior to introducing the repaired mitochondrial genome into somatic or germ cells. Moreover, the creation of heteroplasmic mice would provide a greater understanding of the dynamics of mitochondrial diseases. Mitochondrial isolation and transfer techniques would therefore be of great importance in the production of appropriate mice models. In this thesis, we report the successful transfer and detection of foreign mtDNA into embryos, while providing detailed, efficient and replicable methodology which serves as good initial steps for the production of appropriate mice models in the study of mitochondrial diseases in future studies. These mouse models could in turn be used to further our knowledge in the field of mitochondrial medicine and assist us in gaining a better understanding of the complexities of mitochondrial genetics and the pathophysiology of some of these mitochondrial diseases.