Masters Thesis

Mitochondrial replacement therapy: factors in decision-making

Females affected with mitochondrial disease originating from the maternally inherited mitochondrial DNA (mtDNA) have struggled in the past with the decision to have biological children who are at risk of developing symptoms of mitochondrial disease. Mitochondrial replacement therapy (MRT) was developed as a reliable means of preventing the transmission of mtDNA-based mitochondrial disease to offspring. MRT involves using a donor oocyte as a source of healthy mitochondria, while preserving the intended parent’s genetic link to their child. We examined the decision-making factors that those impacted by mtDNA-based disease would consider about MRT. A quantitative survey was utilized to collect demographic information and gauge participant knowledge about mitochondrial disease and MRT. Qualitative interviews were conducted with eleven people impacted by mitochondrial disease. Participants, although supportive of MRT, were aware of potential risks it may introduce. Included in the findings were the influences of the patient’s personal experiences, motivations to pursue MRT, reservations about MRT, and recommendations surrounding the optimization of MRT from the patient perspective. As MRT is not currently legal or available in the US, it is important to take patient voices into consideration when implementing policies and introducing new therapies into the clinic setting.