Research Digest 31/05/19

Welcome to the 24th Emerge Australia Research Digest, where you will find summaries of some of the latest research and information about ME/CFS, with links to the complete articles.

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Genetic predisposition for immune system, hormone, and metabolic dysfunction in myalgic encephalomyelitis/chronic fatigue syndrome: A pilot study

Authors: Perez M, Jaundoo R, Hilton K, Alamo A, Gemayel K, Klimas N, Craddock T, Nathanson L.


Researchers in the US have found preliminary evidence that genetic predisposition could play a role in the development of ME/CFS. The study conducted single-nucleotide polymorphism (SNP) DNA testing for 383 ME/CFS patients. SNP represents a difference in a single DNA building block (a nucleotide). The researchers utilised the commercial DNA testing company 23andMe for the study.

The study identified a notable number of SNPs within the ME/CFS cohort. The authors stated, ‘Functional analysis identified the majority of SNPs as related to the immune system, hormone, metabolic and extracellular matrix organization’. The SNPs found in people with ME/CFS were then scored using the Combined Annotation Dependent Depletion (CADD) algorithm, a measure that ranks the SNP’s harmfulness. It was found that numerous SNPs found in people with ME/CFS were among the 10% most harmful substitutions to the human genome. A substitution is a mutation in the gene that exchanges one base for another, for example, switching an A base to a G base.

Results of this study enhance the current understanding of ME/CFS and its causes. Overall, results will lead to a better method of diagnosis and targeted genetic therapy.

Epstein-Barr virus dUTPase induces neuroinflammatory mediators: Implications for myalgic encephalomyelitis/chronic fatigue syndrome

Authors: Williams M, Cox B, Lafuse W, Ariza M.


Researchers in the US have found evidence that for a subset of ME/CFS patients, the Epstein-Barr virus (EPV) could initiate neuroinflammatory responses in the body, which contribute to symptoms such as fatigue, pain and cognitive issues. Previous studies done by the same researchers showed that a significant percentage of ME/CFS patients have prolonged elevated levels of antibodies against EPV, as well as other virus proteins. Antibodies are immune system defences that the body can create to attack foreign substances.

In this study, EPV proteins were tested in mice to see their effect on specific gene expressions. The results showed that the EPV protein altered gene expressions, which affected the blood-brain barrier integrity/function, fatigue, pain synapse structure and function, as well as numerous neurochemical metabolism.

Searching for serum antibodies to neuronal proteins in patients with myalgic encephalopathy/chronic fatigue syndrome

Authors: Giannoccaro M, Cossins J, Sorland K, Fluge O, Vincent A.


Researchers have found that ME/CFS patients have no significant increase in the presence of antibodies against brain proteins, compared to healthy individuals. To compare antibody levels between ME/CFS and healthy patients, researchers collected sera (a blood component containing antibodies) samples from 50 ME/CFS and 50 healthy patients. This serum was then tested for the presence of antibodies.

The study found that there was no overall difference between people with ME/CFS and healthy controls. However, it was found that ME/CFS patients with a presence of antibodies against brain proteins at the onset, have had a shorter duration of illness since onset and more severe symptoms, suggesting a possible role of antibodies at onset in some patients. The authors stated that, ‘The presence of similar antibodies in patients and participants could reflect that low levels of antibodies, as found here, require other factors to be causative.’

Channel 9 TODAY Extra – Doctors don’t know enough


Dr Heidi Nicholl, CEO of Emerge Australia, interviewed with TODAY show hosts on Wednesday 29 May 2019 about myalgic encephalomyelitis/chronic fatigue syndrome.

During the interview, Heidi explains the common mislabelling of ME/CFS as ‘chronic fatigue’, describes what ME/CFS is, as well as the problems patients have accessing appropriate medical care. Heidi talks about ME/CFS as a chronic, neurological condition, where 25% of those with ME/CFS are so severely unwell that they are housebound or bedbound.

The interview is approximately five minutes long and is great national media coverage on ME/CFS.

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