Genetic link identified for chronic fatigue syndrome could advance treatment

UK-based PrecisionLife announced on Wednesday that it has found a genetic link to myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

Around 17 million people worldwide suffer from chronic fatigue syndrome (CFS), with symptoms including malaise, fatigue, chronic pain and cognitive impairment. There are no drugs to directly treat, let alone cure, CFS and patients are routinely prescribed painkillers, antidepressants and other medications to relieve symptoms.

PrecisionLife said the research could lead to better diagnostics and treatments for a notoriously difficult to diagnose and treat disease.

The study could also lead to new drugs and treatments for a wide range of diseases linked to chronic fatigue, such as multiple sclerosis and autoimmune diseases.

The researchers also found 199 mapped single nucleotide polymorphisms across 14 genes “that were significantly associated with 91% of cases in the ME/CFS population,” PrecisionLife noted in its announcement.

The researchers used data from the UK Biobank and used combinatorial analysis, which examines the relationship and interactions between multiple genes. Most genetic diseases are complex and involve more than a single gene.

PrecisionLife analyzes “huge multidimensional datasets and accurately models the behavior of complex systems.”

The data has been submitted for publication and is available on the pre-publication site Medrxiv. It is presented Thursday at the ME Genetics Research Summit organized by Action for ME and the MRC Human Genetics Unit at the University of Edinburgh.

Sonya Chowdhury, chief executive of patient advocacy group Action for ME, said the research could lead to the first real treatments for chronic fatigue.

“These are exciting findings from PrecisionLife that could be used to develop diagnostic biomarkers and uncover new drug targets and precision repositioning opportunities in the future,” Chowdhury said in a statement. “If successful, these could be used to create the first therapeutic options for this debilitating disease.”

Many genes are associated with vulnerabilities to stress and infection, mitochondrial dysfunction, sleep disturbances, and autoimmune development.

The study also identified similarities to PrecisionLife genes that have been shown to be associated with multiple sclerosis and Long COVID. Some researchers also believe that some COVID patients can develop CFS.

PrecisionLife researchers are studying the link between COVID-19 and chronic fatigue and have identified three genes with a potential link.

The company said it would dive into more data using the same combinatorial analysis from the DecodeME study, the largest ME/CFS genetic study, with more than 20,000 participants.

“These groundbreaking results offer new hope for developing effective precision medicines for people with ME/CFS worldwide,” Precision Medicine CEO Steve Gardner said in the announcement.

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