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Chronic fatigue syndrome linked to almost 200 genetic variants

In a study of more than 2300 people with chronic fatigue syndrome, 91 per cent had these genetic variants, in a discovery that could improve diagnosis and treatment
Nearly 200 hundred genetic variants on 14 genes have been linked to chronic fatigue syndrome
Nearly 200 hundred genetic variants of 14 genes have been linked to chronic fatigue syndrome
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èƵs have discovered possible genetic risk factors involved in chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME).

ME/CFS is a poorly understood condition characterised by persistent fatigue and brain fog. It is thought to .

To better understand its cause, at UK biotechnology company PrecisionLife and his colleagues analysed DNA samples from 2382 participants of the UK Biobank study, all of whom had been diagnosed with ME/CFS.

Most genetic studies look for differences in single DNA letters, known as single nucleotide polymorphisms (SNPs). In contrast, Gardner and his colleagues searched for differences in combinations of SNPs, allowing them to identify genetic traits that may only be in a subgroup of people with ME/CFS.

The team identified 199 SNPs, of 14 genes, in 91 per cent of the participants with ME/CFS. A statistical analysis suggests this wasn’t a chance finding.

Previous studies have linked these genetic variants to our mitochondria – our cells’ energy powerhouses, as well as our circadian rhythm or body clock, and our overall stress response. People with these variants may also be at a heightened risk of catching viral and bacterial infections or developing certain autoimmune conditions, such as multiple sclerosis.

Research suggests that . Many with the condition also commonly experience sleep disturbances and symptoms associated with autoimmune conditions, such as muscle and joint pain.

According to Gardner, identifying the genetic variants provides vital clues as to the underlying mechanisms of ME/CFS.

“These findings allow us to now target research towards these areas, which could significantly accelerate both the discovery of new diagnostics and provide a feasible background for novel drug discovery,” he says.

There are no diagnostic tests for ME/CFS, with people often being told their symptoms are psychosomatic.

Identifying these genetic variants is insufficient by itself to make a diagnostic test, as they merely indicate whether someone is at a heightened risk of ME/CFS, not that they have the condition, says Gardner. Nevertheless, they could point scientists in the right direction.

“Knowing the genes allows us to see which processes are involved in the disease,” says Gardner. “We may be able to spot some of the products of those metabolic processes in the blood, which could help lead to a blood test or some other relatively non-invasive test.”

at the University of Edinburgh in the UK is interested in how the findings could lead to new treatments, but cautions that the study was relatively small for genetic research and the results need to be replicated.

Ponting is involved in the DecodeME study, which is analysing DNA samples from 25,000 people with ME/CFS.

If the same 14 genes are identified in DecodeME, it could allow scientists to conduct laboratory studies into blocking those genetic pathways in different tissues to help alleviate the symptoms of ME/CFS.

“If DecodeME were to find the same thing, it would really be quite exciting,” says Ponting.

“Knowing whether CFS is a disease of, say mitochondria, or the nervous system or an immune system disease, will be a huge step forward. At the moment, there’s a rather scattergun approach to looking at all things.”

Reference:

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Topics: chronic fatigue syndrome / Genes / Genetics