Publications Search

Search for publications by author
Search for publications by abstract keyword(s)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases


Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multisystemic symptoms and can have any mode of inheritance. Using a single test, Genome Sequencing (GS) can effectively identify variants in both genomes, but it has not yet been universally used as a first-line approach to diagnosing mitochondrial diseases due to related costs and challenges in data analysis. In this article, we report three patients with mitochondrial disease molecularly diagnosed through GS performed on DNA extracted from blood to demonstrate different diagnostic advantages of this technology, including the detection of a low-level heteroplasmic pathogenic variant, an intragenic nuclear DNA deletion, and a large mtDNA deletion. Current technical improvements and cost reductions are likely to lead to an expanded routine diagnostic usage of GS and of the complementary "Omic" technologies in mitochondrial diseases.

Type Journal
ISBN 2073-4425 (Electronic) 2073-4425 (Linking)
Authors Rius, R.; Compton, A. G.; Baker, N. L.; Welch, A. E.; Coman, D.; Kava, M. P.; Minoche, A. E.; Cowley, M. J.; Thorburn, D. R.; Christodoulou, J.
Publisher Name Genes
Published Date 2021-04-30
Published Volume 12
Published Issue 4
Status Published in-print
DOI 10.3390/genes12040607
URL link to publisher's version