The tissue results largely pointed to the brain which was also reported by the DecodeME preprint and Ponting in his talk. See figure 3. Still might be interesting to try other cell types though I do not expect a hit there.
Eccentric medium spiny neuron (eMSN) sometimes called eccentric spiny projection neurons (eSPNs) is the cell type that came up in Paolo Maccallini’s genetic analysis for ME/CFS. He used a meta-anaysis of DecodeME and the Million Veteran Program (Neff = 74,219). Using a tool called MAGMA, Paolo...
Possible link between CRH and the eccentric medium spiny neuron Paolo found:
CRF release from a unique subpopulation of accumbal neurons constrains action-outcome acquisition in reward learning
There have been so many weird and denigrating names for our disease: chronic fatigue syndrome, post-exertional malaise, sickness behavior, photophobia.
If anything it must mean we're on the right track with "eccentric medium spiny neuron (eMSN) in the claustrum"!
These were the 5 hits in the meta-analysis. The one on chromosome 17 for CA10 is not there but we do have a new one on chromosome 19.
Paolo provided the GRCh38 location in the supplementary material:
topLeadSNP
GRCh38
GRCh37
rs2503773
6:98089269:A:G
6:98537145:A:G
rs12579722...
Paolo wrote out his analysis in an interesting scientific paper discussed here:
https://www.s4me.info/threads/biological-insights-from-genome-wide-association-studies-and-whole-genome-sequencing-of-me-cfs-2026-maccallini-et-al.50225/
This is impressive work and well worth an in depth-read!
It follows the same line of reasoning we've been talking about on the forum fore more than a year, based on both the DecodeME data on common mutations and Mark Synder study on rare mutations hinting at neural synapses in the pathology of...
Pasting some of the data here. All small studies but with major effects.
Bakheit et al. 1992 (Behan group from Glasgow)
15 patients with postviral fatigue syndrome, split per sex: 9 men and 6 women.
60mg buspirone
Peak value for prolactin increased 4-7 fold in patients compared 1.2-3 fold in...
This paper in Nature Mental Health, published today might be relevant:
Mapping histamine pathway networks in the human brain across cognition and psychiatric disorders
Source: https://www.nature.com/articles/s44220-026-00637-1
Great blog and wonderful news!
I was struck by this line:
I didn't know this. So this would be an area of technology and biomedicine where ME/CFS is actually in the lead?
There was an issue that some data/screenshots from the presentations of the Berlin conference could not be made public yet. We have therefore deleted all our posts and our blog article about it. Apologies for the error.
Videos of the presentation will be made available later by the ME/CFS...
Perhaps it's just that DecodeME on its own didn't have the precision to pinpoint BTN2A1, it's only with the DecodeME PheWAS of rare variants that it became a likely candidate. He talked about BTN2A1 during the presentation.
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