Journal
GENES
Volume 12, Issue 4, Pages -Publisher
MDPI
DOI: 10.3390/genes12040607
Keywords
mitochondria; heteroplasmy; genome sequencing; respiratory chain; mutation
Categories
Funding
- Australian Genomics Health Alliance - National Health and Medical Research Council (NHMRC) [1113531]
- NHMRC [1164479, 1155244]
- US Department of Defense Congressionally Directed Medical Research Programs [PR170396]
- Victorian Government's Operational Infrastructure Support Program
- Australian Mito Foundation
- Vincent Chiodo Charitable Trust
- New South Wales Ministry of Health
- Royal Children's Hospital Foundation
- Crane family
- Perkins family
- National Health and Medical Research Council of Australia [1164479, 1155244] Funding Source: NHMRC
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Genome Sequencing (GS) can effectively identify variants in both nuclear and mitochondrial DNA, offering diagnostic advantages for mitochondrial diseases. With ongoing technical improvements and cost reductions, the routine diagnostic usage of GS is expected to expand in the field of 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.
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