Aussie scientists find genetic changes associated with chronic fatigue syndrome (CFS)

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Australian researchers say they’ve found genetic changes associated with chronic fatigue syndrome (CFS, also known as Myalgic Encephalomyelitis or ME). The results could help settle a long-standing debate about whether the condition, initially dismissively referred to as ‘yuppie flu’, is purely psychological or whether it has a biological cause in the body. The scientists identified genetic changes in receptors associated with immunological and cellular function, which they say disrupt signalling mechanisms involving the detection and response to threats.

Journal/conference: Immunology and Immunogenetics Insights

Organisation/s: Griffith University

Media Release

New research findings may shed new light on the potential cause of Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME). 

Researchers from Griffith University’s National Centre for Neuroimmunology and Emerging Diseases (NCNED) – part of the new Menzies Health Institute Queensland - have uncovered significant factors contributing to the pathology of this illness. 

The results reveal genetic changes in important receptors associated with immunological and cellular function and contribute to the development of this complex illness.

“These findings have been achieved through a team effort involving researchers, patients, funding bodies, clinicians and the support of Griffith University and the Queensland Government,” say chief investigators Professor Sonya Marshall-Gradisnik and Professor Donald Staines.

Co-researcher and consultant immunologist Professor Pete Smith said that important signalling mechanisms are disrupted as a result of these genetic changes involving the detection and response to threats. 

“These are primitive genes that are involved in many cellular signals in the brain, gut, cardiovascular and immune systems, as well as in the mediation of pain.”

These research findings coincide with International Neuroimmune Awareness week commencing Monday 11 May. 

The Griffith Health Centre on the university’s Gold Coast campus is being lit up each evening from 10 -12 May to raise awareness of neurological conditions such as CFS/ME as well as other conditions such as Fibromyalgia and Gulf War Syndrome. 

“The lighting up of the Griffith Health Centre signifies Griffith’s commitment to the CFS patient community and our team approach to this research,” says Pro-Vice Chancellor (Health) Professor Allan Cripps.

CFS/ME is a highly debilitating disorder characterised by profound fatigue, muscle and joint pain, cerebral symptoms of impaired memory and concentration, impaired cardiovascular function, gut disorder and sensory dysfunction such as noise intolerance and balance disturbance. Many cases can continue for months or years. It is believed to affect around 250,000 Australians.

The research findings are to be presented at an international conference in London later this month.


Expert Reaction

These comments have been collated by the Science Media Centre to provide a variety of expert perspectives on this issue. Feel free to use these quotes in your stories. Views expressed are the personal opinions of the experts named. They do not represent the views of the SMC or any other organisation unless specifically stated.

Professor Sonya Marshall-Gradisnik is from The National Centre for Neuroimmunology and Emerging Diseases, Menzies Health Institute Queensland Griffith University, and was an author of the study

These results are the outcome of many years dedicated work by our Griffith University research team. 

We are grateful for the many patients who have participated in this research, we could not have done it without them.

We are grateful for all our funding partners and we are also grateful to the many people in the community who have made donations to this research within Griffith University.

We will be presenting our results at the Invest in M.E. conference in London later this month.

Last updated: 03 Nov 2016 8:44pm

Professor Donald Staines is from The National Centre for Neuroimmunology and Emerging Diseases, Menzies Health Institute Queensland Griffith University, and was an author of the study

These discoveries prove that gene changes in certain vital receptors within the body are significantly different from healthy controls.

The receptors affected are associated with cellular signalling and critical cellular functions.

The receptors are distributed throughout central nervous system, cardiovascular system and gastrointestinal system, immune system.  They are in fact throughout the entire body.

These findings demonstrate the likely organic nature of Chronic Fatigue Syndrome aka Myalgic Encephalomyelitis, although we hasten to add they are not necessarily the cause of fatigue generally. Clearly the name of the illness needs to change as this is likely to be a specific illness with a wide range of clinical expression.

We thank and acknowledge the Journal of Immunology and Immunogenetics Insights for publishing the two articles, the first is due out in the next couple of days

We hope these discoveries will pave the way for treatments over the next few years, however the complexity of these discoveries has many challenges for us.

Last updated: 03 Nov 2016 5:51pm
Dr Robert Loblay is Director of the Allergy Unit, Department of Clinical Immunology, Royal Prince Alfred Hospital, Sydney, and a Senior Lecturer in Medicine at the Central Clinical School, University of Sydney

The press release is misleading when it refers to “a potential biological cause” of CFS. “Causes” can be broken down into predisposing, precipitating, perpetuating and aggravating factors. That there is a genetic predisposition in people with CFS has been known for a long time. The significance of this pilot study is that identifying specific gene variants (SNPs) that correlate with the disorder potentially allows mechanistic hypotheses to be formulated and explored in future studies. From this point of view, the findings are intriguing, especially the strong association with TRPM3.
There are two main difficulties in interpreting these results. Firstly, “CFS” is a very heterogeneous condition in terms of symptom manifestations, precipitating and aggravating factors. Genomic studies in these circumstances are of limited value in the absence of detailed phenotypic (clinical) information. The paper provides no information about patient characteristics. The diagnostic criteria used are not specified, nor are the ages or the range of clinical characteristics within the group. And if they were recruited from a CFS support group, significant biases could have been introduced in terms of their clinical features (symptom clusters, severity, chronicity, perceived trigger factors etc.).
CFS research has long been bedevilled by recruitment biases and selection of healthy controls for comparison. The controls in this study were apparently not matched in any way. Consequently, the results cannot determine whether the gene variants correlate with CFS itself, or with one or more of the symptom clusters that overlap with CFS (fibromyalgia; irritable bowel syndrome; migraine; susceptibility to environmental, food & other triggers; prolonged convalescence from viral illness; postural orthostatic tachycardia syndrome; etc). It would have been more informative to select controls matched for each of these disorders in the absence of the profound fatigue and cognitive changes that are the distinguishing characteristics of CFS.
Secondly, the wide tissue distribution and multitude of functions of TRP channels generally (and TRPM3 in particular) make it imperative to correlate the presence of SNPs with individual clinical characteristics. For example, TRPM3 is highly expressed in sensory neurons (where it mediates the response to noxious heat), but it’s also present in pancreatic cells (where it controls insulin release), in the brain, pituitary gland, eye, kidney, cardiovascular system and fat tissue (but not, as far as I know, in the immune system). Moreover, TRP channels modulate the function of an array of other receptors, signalling pathways and mediators, making it an exceedingly complex task to formulate coherent hypotheses about the functional consequences of particular SNPs, and to determine their relationship to a heterogeneous condition such as CFS.
There is a long way to go to work out what the significance of these findings is (if any) for understanding the complex pathogenesis of CFS. Without good correlative clinical data, and a detailed understanding of the molecular and cellular structure-function relationships of the SNPs identified in this paper (unknown as far as I can tell), one wouldn’t know where to begin looking. It is, however, a small step forward. More definitive studies are awaited with interest.


Last updated: 03 Nov 2016 4:37pm

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