Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
EMBO molecular medicine - 1 Jun 2018
Grady John P, Pickett Sarah J, Ng Yi Shiau, Alston Charlotte L, Blakely Emma L, Hardy Steven A, Feeney Catherine L, Bright Alexandra A, Schaefer Andrew M, Gorman Gráinne S, McNally Richard Jq, Taylor Robert W, Turnbull Doug M, McFarland Robert
Abstract excerpt
Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N = 231, urine N = 235, skeletal muscle N = 77) represents the m.3243A>G mutation load and mitochondrial DNA (mtDNA) copy number most strongly associated with disease...
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