A new study has provided the first detailed genetic insights into the pathophysiological mechanisms underpinning Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).
This is the first time that replicable genetic findings have been reported in over 30 years of study into the disease, potentially offering new approaches for better diagnosis and treatment of patients.
The results were presented at the ME Genetics Research Summit organised by ME charity, Action for ME and the MRC Human Genetics Unit, University of Edinburgh.
The study also identified similarities with genes that are believed to be associated with multiple sclerosis (MS) and long Covid.
Disease architecture diagram demonstrating 15 groups of SNPs that make up the structure of ME/CFS patient sub-populations identified by the PrecisionLife study. Each circle represents a disease-associated SNP genotype, edges represent their co-association in patients in disease signature(s), and colours represent distinct patient sub-populations. On the right: the same disease architecture view coloured to show the critical SNPs associated with each community.Copyright: PrecisionLife
Using the PrecisionLife platform the study identified 14 novel genetic associations with ME/CFS from the UK Biobank cohort. Specifically, the combinatorial analysis revealed 199 single nucleotide polymorphisms (SNPs) that were significantly associated with 91% of the cases in the ME/CFS population.
Hope for first therapeutic options
ME/CFS is a debilitating chronic disease affecting around 17 million people worldwide, which presents with diverse
symptoms including post-exertional malaise, chronic pain, and cognitive impairment. There are currently no approved disease modifying therapies for ME/CFS.
Sonya Chowdhury, Chief Executive, Action for ME, said: “For too long, people with ME/CFS have struggled to get their condition diagnosed, understood, and acknowledged. These are exciting findings from PrecisionLife that may be used to develop diagnostic biomarkers and discover novel drug targets and precision repositioning opportunities in the future. If successful, these could be used to create the first therapeutic options for this debilitating disease.”
Similarities to long Covid
MS and ME/CFS patients share a number of similar symptoms and there is increasing evidence that many long Covid patients also share these symptoms.
The company is analysing long Covid-19 and MS populations to identify shared genes and biological mechanisms.
Preliminary findings have indicated that three of the genes identified in the ME/CFS study are also significant in the long Covid patient group.
PrecisionLife hopes to replicate and extend these results with combinatorial analysis of the DecodeME study, the largest genetic ME/CFS study, with over 20,000 participants.
