Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

Mitochondria are a component of cells that provide energy to the cells and organs of the body. Mutations in mitochondrial DNA result in insufficient energy produced by the mitochondria. These are known as mitochondrial disorders. They are difficult to diagnose because their symptoms are not specific; patients may have a history of seemingly unrelated symptoms that may change over their lifetime. Detection early in life is beneficial in case therapy is needed. Although no specific treatment for mitochondrial disorders exists yet, there are various supplements that can be given to patients to improve the function of their afflicted mitochondria, which can improve their quality of life. Currently, there is no test to screen patients for mitochondrial disorders. Diagnosis is made when a physician suspects a mitochondrial disorder based on many symptoms of the patient, and sends the patient for DNA testing. These tests cannot be performed for every suspected case, as they are too costly and time consuming. Therefore, this project aims to develop a rapid, inexpensive screening tool that can be used in the clinical laboratory. I designed a system of artificial DNA, which when triggered by the presence of mutated mitochondrial DNA, creates new strands of artificial DNA. A detectable fluorescent signal is given off when the new DNA is created. The newly made DNA is designed to also trigger the initial artificial DNA system. This results in continuous amplification of the fluorescent signal, which means that very small amounts of mutated mitochondrial DNA will be detected. Therefore, the system is ultrasensitive. Artificial DNA is inexpensive and durable, and my assay is easy to use (components mixed in a single tube) and fast (under 45 minutes). Using this assay in clinical laboratories fulfills the need for mitochondrial disorder screening assays.