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Article

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

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Murdoch Children’s Research Institute, Melbourne, VIC 3052, Australia
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Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia
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Victorian Clinical Genetic Services, Melbourne, VIC 3052, Australia
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Department of Metabolic Medicine, Queensland Children’s Hospital, Brisbane, QLD 4101, Australia
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School of Clinical Medicine, University of Queensland, Brisbane, QLD 4072, Australia
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School of Medicine, Griffith University, Gold Coast, QLD 4222, Australia
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Department of Neurology, Perth Children’s Hospital, Perth, WA 6009, Australia
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Department of Metabolic Medicine and Rheumatology, Perth Children’s Hospital, Perth, WA 6009, Australia
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Kinghorn Centre for Clinical Genomics, Garvan Institute, University of New South Wales, Randwick, NSW 2010, Australia
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Precision Medicine Theme, Children’s Cancer Institute, Kensington, NSW 2750, Australia
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School of Women’s and Children’s Health, University of New South Wales, Randwick, NSW 2031, Australia
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Author to whom correspondence should be addressed.
Academic Editor: Monika Olahova
Genes 2021, 12(4), 607; https://doi.org/10.3390/genes12040607
Received: 19 March 2021 / Revised: 16 April 2021 / Accepted: 17 April 2021 / Published: 20 April 2021
(This article belongs to the Special Issue Expanding the Genetic Landscape 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. View Full-Text
Keywords: mitochondria; heteroplasmy; genome sequencing; respiratory chain; mutation mitochondria; heteroplasmy; genome sequencing; respiratory chain; mutation
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MDPI and ACS Style

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. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. Genes 2021, 12, 607. https://doi.org/10.3390/genes12040607

AMA Style

Rius R, Compton AG, Baker NL, Welch AE, Coman D, Kava MP, Minoche AE, Cowley MJ, Thorburn DR, Christodoulou J. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. Genes. 2021; 12(4):607. https://doi.org/10.3390/genes12040607

Chicago/Turabian Style

Rius, Rocio, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, and John Christodoulou. 2021. "Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases" Genes 12, no. 4: 607. https://doi.org/10.3390/genes12040607

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