Journal article

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Rocio Rius, Alison G Compton, Naomi L Baker, AnneMarie E Welch, David Coman, Maina P Kava, Andre E Minoche, Mark J Cowley, David R Thorburn, John Christodoulou

Genes | MDPI | Published : 2021


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 pa..

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Awarded by Australian Genomics Health Alliance - National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Awarded by US Department of Defense Congressionally Directed Medical Research Programs

Funding Acknowledgements

This research was funded by a grant from the Australian Genomics Health Alliance, which is funded by the National Health and Medical Research Council (NHMRC) 1113531 (J.C., D.R.T.) as well as other NHMRC grants and fellowships 1164479 (D.R.T., J.C.); 1155244 (D.R.T.), plus grants from the US Department of Defense Congressionally Directed Medical Research Programs PR170396 (D.R.T., J.C.), the Victorian Government's Operational Infrastructure Support Program (D.R.T., J.C.), the Australian Mito Foundation (A.G.C., D.R.T., J.C.), the Vincent Chiodo Charitable Trust (D.R.T.) and the New South Wales Ministry of Health-funded Luminesce Alliance (M.J.C.). The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children's Hospital Foundation. We are grateful to the Crane and Perkins families for their generous financial support.