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Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

Genes - 20 Apr 2021

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

Abstract excerpt

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...

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PMID: 33924034
DOI: 10.3390/genes12040607
PMCID: PMC8072654

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