Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Sarah J PickettJohn P GradyYi Shiau NgGráinne S GormanAndrew M SchaeferIan J WilsonHeather J CordellDoug M TurnbullRobert W TaylorRobert McFarland

Published in: Annals of clinical and translational neurology (2018)

Our results provide good evidence for the presence of nuclear genetic factors influencing clinical outcomes in m.3234A>G-related disease, paving the way for future work identifying these through large-scale genetic linkage and association studies, increasing our understanding of the pathogenicity of m.3243A>G and providing improved estimates of prognosis.

Keyphrases

genome wide
oxidative stress
copy number
single cell
dna methylation
escherichia coli
pseudomonas aeruginosa