I-Corps: A novel method to isolate and sequence mitochondrial DNA

Icahn School Of Medicine At Mount Sinai, New York NY

Investigators

Abstract

The broader impact/commercial potential of this I-Corps project encompasses the area of personalized medicine and forensics. It will have an impact on medicine by leading to new diagnostic applications. The technology being developed here facilitates accurate determination of the mitochondrial genome. Degeneration of mitochondrial function has been implicated in Parkinson's disease, Alzheimer's disease and several other neurological disorders. In forensics, the technology could allow for identification of individuals based on mitochondrial variants derived from hair samples. Pharmaceutical R&D could use the technique to study the effects of their drugs to measure mitochondrial toxicity. This I-Corps project further develops a novel method that enzymatically purifies Mitochondrial DNA (mtDNA) by depleting linear nuclear DNA, enabling inexpensive sequencing of mtDNA. A major benefit of this method is the ability to identify heteroplasmy, which is the existence of different mitochondrial genomes in the same individual. Every person has some level of heteroplasmy, and measuring this accurately is the key to identifying risk of diseases.