Document Type
Article
Publication Date
2020
Abstract
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.
Recommended Citation
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
Publication Title
Methods in Cell Biology
DOI
10.1016/bs.mcb.2019.11.009
Comments
© 2020 Elsevier Inc. All rights reserved.