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New study links 14 genes to ME/CFS

SWAlexander

Senior Member
Messages
1,962
A study has analysed existing genetic data in a new way to link 14 genes to ME/CFS and identify many patient subgroups. If the new approach pans out, it could transform ME research and turbocharge the development of treatments.

Paper: Genetic Risk Factors for ME/CFS Identified Using Combinatorial Analysis
Authors: Sayoni Das, Krystyna Taylor, James Kozubek, Jason Sardell, Steve Gardner

The paper has been submitted to a scientific journal and is being considered for publication. For now, the submitted draft is available as a preprint.

The study is from Oxford-based tech company PrecisionLife. It aims to find better treatments for chronic illnesses that have few or no treatment options – such as ME.

PrecisionLife uses a technique called combinatorial analysis. Big DNA studies look for differences in single DNA’ letters’, called single nucleotide polymorphisms or SNPs, pronounced “snips”. But PrecisionLife looks for combinations of these differences. They call these combinations disease signatures.
continue reading: https://mecfsresearchreview.me/2022/09/15/new-study-links-14-genes-to-me-cfs/
 

Wishful

Senior Member
Messages
5,811
Location
Alberta
The findings, and the approach, looks like finding vague patterns in random numbers. If you play with random numbers enough, you can find pretty much any pattern you want to find. They even admitted that applying the algorithm to a different set of subjects, showed a much lower match. That's what you'd expect if the patterns were just imaginary ones found in one particular data set.

I'm not jumping up and down with excitement about their findings. :meh:
 

BrightCandle

Senior Member
Messages
1,161
Hopefully DecodeME will be more definitive since its got a relatively tighter criteria and a large sample size it ought to do a better job of finding potential commonalities if there is a genetic component. This prior biobank stuff isn't fantastic quality unfortunately the criteria have been a bit all over the place over the years.
 

Wishful

Senior Member
Messages
5,811
Location
Alberta
I was thinking more about the findings. I think they were hoping to find a single set of factors that the majority of PWME had in common: their scatterplot would be one cluster of dots. They failed to find that obvious link, and so they had to split it into 15 clusters in order to get the statistical correlation high enough. If you took random data, you could 'find' any number of correlations depending on how you set the value for correlation.

I read the findings as "no obvious genetic factors were found, but we still want funding to continue".

I wonder, if ME is due to epigenetic factors, would their analysis reveal them? The common factor could be developmental changes due to the exposure to BHA or dioxins, or the ratio of one nutrient vs another at the start of puberty, or the quality of sleep at age 6, or some other such factor.
 

SWAlexander

Senior Member
Messages
1,962

Wishful

Senior Member
Messages
5,811
Location
Alberta
There are two components I can relate to, low energy:

The article doesn't say that mitochondrial dysfunction results in the feeling of low energy; it just says that there was a link between mitochondrial activity and stress, and that impaired mitochondrial function can have effects. I think it's possible that impaired mitochondrial activity in a specific part of the brain could cause a feeling of more energy; it's all in where the change occurs and what's downstream.

I did find this interesting: " Neurons sometimes eliminate damaged mitochondria by passing them to astrocytes, and astrocytes send them healthy mitochondria."

and feeling always cold: Does the mitochondria produce body heat?

It's not that simple. Mitochondria do produce heat (the temperature of that heat isn't all that important), since most energy conversion processes are not 100% efficient. I'm pretty sure most of the body's heat output comes from the ATP being used in other cells (also not 100% efficient). Furthermore, feeling cold is not guaranteed to be the result of inadequate body temperature or heat generation; it could be neurological mis-processing, with the 'feeling cold' neurons firing when they shouldn't.

There's a simple experiment they should do with people who 'feel cold': measure their internal body temperature and their heat output, and compare that to controls. My guess is that they'll find plenty of people with lower-than-average temperature who feel warm, and vice-versa, and that it's more a matter of how internal temperature sensing is processed and thus perceived.
 

Rufous McKinney

Senior Member
Messages
13,462
My guess is that they'll find plenty of people with lower-than-average temperature who feel warm, and vice-versa, and that it's more a matter of how internal temperature sensing is processed and thus perceived.

I agree with you, generally.

but I have to comment that if my husband sits in my leather chair for five minutes: its so hot and boiling over.

He is like a mobile furnace.
 

SWAlexander

Senior Member
Messages
1,962
There's a simple experiment they should do with people who 'feel cold': measure their internal body temperature and their heat output,

This is very interesting. Thank you. Could you please provide information on this simple experiment?
I have had low temperatures all my life and even during sepsis.
 

Wishful

Senior Member
Messages
5,811
Location
Alberta
Well. it should be simple with the right equipment. Internal temperature needs a thermometer placed somewhere inside the body. For measuring heat output, one way is to use a bath (appropriate insulation required for accuracy) and measure the temperature rise over time. I assume some labs have better ways of doing it.
 

YippeeKi YOW !!

Senior Member
Messages
16,064
Location
Second star to the right ...
I'm not jumping up and down with excitement about their findings. :meh:
If you play with random numbers enough, you can find pretty much any pattern you want to find.
I agree. And combine that with confirmational bias, and BINGO !!!! You've got a study that can speak any language you want it to.
I read the findings as "no obvious genetic factors were found, but we still want funding to continue".
:lol::lol::lol::lol: :rofl::rofl::rofl: :squee::squee: ... Cynical minds think alike. Right there with you ....
 
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