The maternally inherited mitochondrial DNA (mtDNA) is a circular 16,569-bp double stranded DNA that encodes 37 genes, twenty-four of which (2 rRNA and 22 tRNA) are necessary for transcription and translation of 13 polypeptides that are all subunits of respiratory chain. Pathogenic mutations of mtDNA cause respiratory chain dysfunction, and are the underlying defect in an ever-increasing number of mtDNA-related encephalomyopathies with distinct phenotypes. In this chapter, we present an overview of mtDNA mutations and describe the molecular techniques currently employed in our laboratory to detect two types of mtDNA mutations: Single-large scale rearrangements and point mutations.
Naini, A., Gilkerson, R., Shanske, S., & Pang, J. (2020). Detection of mitochondrial DNA (mtDNA) mutations. Methods in cell biology, 155, 383–400. https://doi.org/10.1016/bs.mcb.2019.11.009
Methods in Cell Biology