Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue

Authors: Oakley, Julia; Hill, Martin; Giess, Adam; Tanguy, Mélanie; Elgar, Greg

Journal of Translational Medicine, 17 Nov 2023

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Cohorts in this study

Notes

"There was previously a diagnosis of ME/CFS for some years but that label can be a barrier to getting appropriate treatment and was removed after the later diagnosis of other conditions known to cause persistent fatigue."

"Genetic variants causing upregulation of AKR1C2 combined with partial loss of AKR1C1 may constitute a novel pathology that underlies some cases of unexplained chronic fatigue."