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

Detailed genetic study of a patient with ME/CFS found a novel structural variant: "The DNA inversion appears to increase the expression of AKR1C2 while limiting AKR1C1 activity, resulting in a relative increase of inhibitory neurosteroids & impaired progesterone metabolism”

https://shorturl.at/awAF4

#MEcfs #CFS #MyalgicE #PwME

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The authors say this shows the value of long read sequencing in diagnosis.

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