gm286
Senior Member
- Messages
- 151
- Location
- Atlanta, GA
The study was slightly challenging for me to read, but a connection is being made for the role of the SEPN1 gene + Selenoprotein N in regulating bioenergetics via endoplasmic reticulum (ER) - mitochondria contacts.
It's a recurring theme in ME/CFS and energy-related research lately, so I thought I'd include it.
This came from some tentative research I made into "rigid spine syndrome" / congenital muscular dystrophy with rigidity of the spine. Liabilities: I cannot say that I have had obvious problems with my a stiff / cracking spine as a child, nor necessarily with fatigue. Moreover, the SEPN1 gene does not show up in my own whole genome sequencing.
Nonetheless, I match very strongly with the symptoms for rigid spine syndrome (RSS) (which aside for the obvious symptom also include fatigue and pain) and so reading through the study, I felt validated in the link made between this SEPN1-related myopathy (RSS) and the bioenergetics defect. It seemed like on paper, this could explain my ME/CFS symptomology.
In case it it is useful, here is the study.
It's a recurring theme in ME/CFS and energy-related research lately, so I thought I'd include it.
This came from some tentative research I made into "rigid spine syndrome" / congenital muscular dystrophy with rigidity of the spine. Liabilities: I cannot say that I have had obvious problems with my a stiff / cracking spine as a child, nor necessarily with fatigue. Moreover, the SEPN1 gene does not show up in my own whole genome sequencing.
Nonetheless, I match very strongly with the symptoms for rigid spine syndrome (RSS) (which aside for the obvious symptom also include fatigue and pain) and so reading through the study, I felt validated in the link made between this SEPN1-related myopathy (RSS) and the bioenergetics defect. It seemed like on paper, this could explain my ME/CFS symptomology.
In case it it is useful, here is the study.
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