British researchers have launched a major genetic study to better understand the biological mechanisms behind myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).
The DecodeME study received £3.2 million in funding from the UK’s Medical Research Council (MRC) and National Institute for Health Research (NIHR). Researchers plan to collect and analyze DNA samples from approximately 20,000 people with ME/CFS, making it one of the world’s largest genetic studies of the condition.
The goal is to identify genetic differences that may increase a person’s risk of developing ME/CFS. By comparing DNA from people with the condition with that of people without it, researchers hope to uncover biological pathways involved in the disease.
Professor Chris Ponting of the University of Edinburgh, the study’s principal investigator, explained that researchers are looking for DNA differences associated with an increased risk of ME/CFS. Similar large-scale genetic studies have helped scientists better understand the biological mechanisms of other complex diseases, including type 2 diabetes.
There is currently no established biological marker or laboratory test that can independently diagnose ME/CFS. Finding reliable genetic associations could therefore provide researchers with important clues about the condition and potentially contribute to future diagnostic methods and targeted treatments.
ME/CFS can be difficult to diagnose
ME/CFS is a complex and potentially disabling illness. Diagnosis can be difficult because there is no specific diagnostic test, and several of its symptoms can also occur with other medical conditions.
Characteristic symptoms include a substantial reduction in a person’s previous level of activity, profound fatigue that is not substantially relieved by rest, unrefreshing sleep and post-exertional malaise (PEM). PEM is a worsening of symptoms following physical, mental or emotional exertion that would not previously have caused problems. Cognitive difficulties and orthostatic intolerance can also occur.
Doctors generally evaluate a patient’s medical history, symptoms and physical condition and perform appropriate tests to exclude other explanations. ME/CFS can also coexist with other medical or mental health conditions, so the presence of another condition does not necessarily exclude ME/CFS.
The severity of ME/CFS varies considerably. Some people can continue portions of their normal activities, while severely affected patients may become housebound or bedridden.
Researchers hope the large number of participants in DecodeME will provide enough statistical power to identify genetic differences associated with the illness and offer new clues about its underlying biology.
References
UK Research and Innovation (UKRI): Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) research
https://www.ukri.org/what-we-do/browse-our-areas-of-investment-and-support/myalgic-encephalomyelitis-or-chronic-fatigue-syndrome/
Centers for Disease Control and Prevention (CDC): ME/CFS
https://www.cdc.gov/me-cfs/
CDC: IOM 2015 Diagnostic Criteria for ME/CFS
https://www.cdc.gov/me-cfs/hcp/diagnosis/iom-2015-diagnostic-criteria-1.html
British researchers recently announced the start of a genetic study to try to identify the mechanisms of chronic fatigue syndrome.
The DecodeME research program will spend 4.7 million Dollars on chronic fatigue syndrome (CFS). This is good news for the estimated millions of people who suffer from this unusual and poorly understood disease. According to the UK Medical Research Council (MRC), this is one of the world’s largest genetic studies of the disease, also known as Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). On 24 June, the MRC and the National Institute for Health Research officially launched the new study “in the hope of contributing to the development of a screening test and targeted treatments”. To this end, the research team plans to collect 20,000 DNA samples from people suffering from this chronic fatigue syndrome.
To date, no biological marker has been identified for this disease. However, according to MRC, previous studies have highlighted the possibility of partial inheritance, hence the interest in the genome. “We are interested in the DNA differences that may increase the risk of developing ME/CFS,” said Professor Chris Ponting, the principal investigator of the University of Edinburgh, UK. We chose to study DNA because of the significant differences between those who have it and those who don’t have it must be explained by a biological cause. We hope that this study can change research by adding the robust data needed in the field of knowledge”. According to MRC, a comparison of patients’ DNA and controls in the past has led to the discovery of the “biological roots” of “many other complex diseases” such as type II diabetes.
Difficult to diagnose
Improving the detection of this disease is a necessity for many patients. It is a difficult diagnosis that requires the exclusion of other diseases responsible for chronic fatigue (e.g. cancer, endocrine diseases, systemic inflammatory diseases, psychiatric diseases, autoimmune diseases, etc…). The diagnosis of this disease is based on its more or less debilitating symptoms, such as unexplained persistent fatigue, nonrestorative sleep, and post-exercise discomfort, sometimes accompanied by hypersensitivity of hearing or sight. A difficult recognition that makes management difficult: The doctors who are most capable today of diagnosing the disease are internal medicine doctors, but within internal medicine, some believe that these disorders are a psychiatric problem. Patients often go through the psychiatric box, and if the specialist believes the patient is depressed, even if only because of his permanent fatigue, he will be excluded from possible recognition as a CFS sufferer.
According to studies from 2015, between 0.3 and 0.9% of the population may be affected by this disease, and “one in four people with ME/CFS is so severely affected that they stay at home or bedridden,” according to the MRC. The ASFC is fighting to have this disease recognized as a source of disability. The UK research team is expected to start work as soon as the school year begins and patient recruitment is completed in March 2021.
References
https://www.cdc.gov/me-cfs/index.html