A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia (2020) van Tilburg et al.

Cheshire · Jul 18, 2020

Alterations in cellular energy metabolism have been implicated in chronic pain suggesting a role for mitochondrial DNA (mtDNA). Previous studies reported associations of a limited number of mtDNA polymorphisms with specific pain conditions. In this study, we examined the full mitochondrial genomes of people with a variety of chronic pain conditions. A discovery cohort consisting of 609 participants either with or without a complex persistent pain conditions (CPPC) was examined. mtDNA was subjected to deep sequencing for identification of rare mutations, common variants, haplogroups, and heteroplasmy associated with five CPPCs: episodic migraine, irritable bowel syndrome, fibromyalgia, vulvar vestibulitis, or temporomandibular disorders. The strongest association found was the presence of the C allele at the single nucleotide polymorphism (SNP) m.2352T>C (rs28358579) that significantly increased the risk for fibromyalgia (OR=4.6, P=4.3x10). This relationship was even stronger in women (OR=5.1, P=2.8x10), and m.2352T>C was associated with all other CPPCs in a consistent risk-increasing fashion. This finding was replicated in another cohort (OR=4.3, P=2.6x10) of the Orofacial Pain: Prospective Evaluation and Risk Assessment (OPPERA) study consisting of 1754 female participants. To gain insight into the cellular consequences of the associated genetic variability, we conducted an assay testing metabolic reprogramming in human cell lines with defined genotypes. The minor allele C was associated with decreased mitochondrial membrane potential under conditions where oxidative phosphorylation is required, indicating a role of oxidative phosphorylation in pathophysiology of chronic pain. Our results suggest that cellular energy metabolism, modulated by m.2352T>C, contributes to fibromyalgia and possibly other chronic pain conditions.
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https://pubmed.ncbi.nlm.nih.gov/32658146/

No idea if this is a promising lead or not, but here is a thread of one of the PIs explaining what they found
https://twitter.com/user/status/1284578360241291265

wigglethemouse · Jul 19, 2020

The prevalence of m.2352T>C is about 1% according to dbSNP
https://www.ncbi.nlm.nih.gov/snp/rs28358579

The PI on Twitter responded to a question about prevalence of this variant in FM. A bit hard to interpret, but maybe others figure it out.
https://twitter.com/user/status/1284653262873001985

Hopefully the paper will be available on sci-hub at some point.

wigglethemouse · Jul 19, 2020

Alan Light is carrying out a study looking at mtDNA in ME/CFS and FM. Be interesting to see if his data will also show relevance for this variant. This is his study
https://projectreporter.nih.gov/project_info_description.cfm?aid=9600713&icde=50901070

Thread with about a presentation of early data of his study here
https://www.s4me.info/threads/lives...ations-create-susceptibility-for-me-cfs.7072/

Video Presentation here :

wigglethemouse · Jul 19, 2020

m.2352T>C (rs28358579) has a consequence for gene MT-ND1. This is what Alan Light reported in the 2018 presentation about MT-ND1.

rvallee · Jul 19, 2020

Weird how this science thing works differently when you follow the evidence where it leads you, instead of grabbing the evidence by the neck and forcing it your way.

https://twitter.com/user/status/1284917431669010434

Hoopoe · Jul 21, 2020

She is demonstrating exactly what I believe: that the idea of psychosomatic illness is a false explanation that is preventing the discovery of the real causes of many illnesses. To make progress, these ideas need to be questioned first.

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A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia (2020) van Tilburg et al.

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A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia (2020) van Tilburg et al.

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