Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases
Abstract
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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Apr 20, 2021
- Source ID
- 10.3390/genes12040607
Entities
People
- Alison Compton
- Andre E. Minoche
- Annemarie E. Welch
- David Coman
- David Thorburn
- John Christodoulou
- Maina P. Kava
- Mark J. Cowley
- Naomi L. Baker
- Rocio Rius
Organizations
- National Health and Medical Research Council
- United States Department of Defense