Research Research Digest Research Digest 12/02/21 Welcome to the 63rd 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. You can also join our community and choose to have the Digest delivered straight to your inbox every fortnight on a Friday afternoon by signing up to our mailing list here. We appreciate the support of everyone who reads the Digest – we encourage regular subscribers to support us with a monthly suggested donation of $2. You can sign up for monthly giving here. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS): Major Impact on Lives of Both Patients and Family Members Authors: Brittain E, Muirhead N, Finlay AY, Vyas J (Cardiff University, UK)Publication: MedicinaLink: https://www.mdpi.com/1010-660X/57/1/43/htm This study sought to determine the impact that ME/CFS has on the quality of life (QoL) experienced by the partners and family members of those diagnosed, in the hope that such knowledge may appropriately influence management decisions and also highlight areas of support that are required for both the patient and the family members. 24 ME/CFS patients and their families participated in this study. All participants were asked to complete two questionnaires: the World Health Organization Quality of Life (WHOQOL-BREF) and Family Reported Outcome Measure-16. (FROM-16). The authors found that ME/CFS negatively affects the QoL of patients and, most notably, this significantly correlated with that of their family members. While the authors note that the study was limited by small sample size and the non-anonymity of responses within each family, they suggest the results nonetheless highlight the need for more support for family members. Changes in DNA methylation profiles of myalgic encephalomyelitis/chronic fatigue syndrome patients reflect systemic dysfunctions Authors: Helliwell AM, Sweetman EC, Stockwell PA, Edgar CD, Chatterjee A, Tate WP (University of Otago, NZ)Publication: Clinical EpigeneticsLink: https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-020-00960-z There are a number of environmental factors, such as exposure to toxins or chemicals, stressful life events and viral infections, that have been associated with the onset and progression of ME/CFS, and which are thought to be due to epigenetic changes affecting gene expression. One such epigenetic change which has been associated with environmental factors is DNA methylation. This study investigated the pattern of DNA methylation changes in ME/CFS. Blood samples were collected from 10 ME/CFS patients (diagnosed according to the Canadian Consensus Criteria) and 10 age- and gender-matched controls. DNA was extracted from blood samples before undergoing DNA sequencing. The DNA sequences were then analysed using two analytical programs: DMAP to identify genomic changes in DNA fragments, and MethylKit to quantify methylation differences at the single cytosine level. The DMAP analysis identified 76 DNA fragments in the ME/CFS samples as being differentially methylated compared to controls. The MethylKit analysis identified 394 differentially methylated cytosines in ME/CFS samples, including both hyper- and hypo-methylation. Further analysis revealed that these epigenetic changes were clustered in the regulatory regions for 17 protein encoding genes related to metabolic and immune activity. The findings of this study were supported by previous studies, with 59% of the genes identified in this study having previously been identified. The authors conclude that there are significant differences in DNA methylation patterns between patients with ME/CFS and healthy individuals, and that these identified genes should now become targets for validation and further investigation. A SWATH-MS analysis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome peripheral blood mononuclear cell proteomes reveals mitochondrial dysfunction Authors: Sweetman E, Kleffmann T, Edgar C, de Lange M, Vallings R, Tate W (University of Otago, New Zealand)Publication: Journal of Translational MedicineLink: https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-020-02533-3 Previous research by this laboratory identified several significant differences in the transcriptomes of ME/CFS patients compared to control groups. This study aimed to further this knowledge by performing SWATH-MS analysis on the proteomes of peripheral blood mononuclear cells (PBMCs). Blood samples of 11 ME/CFS (diagnosed with Canadian Consensus Criteria) and 9 age- and gender-matched control patients were collected and processed for the PBMC fraction. The proteins within the PBMCs were isolated before undergoing SWATH-MS to quantify and identify the proteins within these samples. Their results revealed 38 proteins which had increased relative abundance and 22 proteins which had decreased relative abundance in the ME/CFS samples compared to controls. These proteins were identified as having roles in mitochondrial function, oxidative phosphorylation, electron transport chain complexes, and redox regulation, as well as the immune inflammatory response, DNA methylation, apoptosis, and proteasome activation. The authors conclude that their findings add to the mounting evidence that mitochondrial dysfunction plays a significant role in the pathogenesis of ME/CFS. Is society getting better at understanding people living with invisible illness? Authors: Hunt R, Long W (ABC Radio Melbourne)Publication: The Conversation HourLink: https://www.abc.net.au/radio/melbourne/programs/theconversationhour/the-conversation-hour/13105192 A recent episode of The Conversation Hour on ABC Radio Melbourne was dedicated to invisible illnesses and the stigma and disbelief often associated with them. Hosts Richelle Hunt and Warwick Long spoke with patients living with invisible illness as well as health professionals. Guest speaker and ME/CFS patient Simone Eyssens described her experience with ME/CFS and the impact that having an invisible illness can have on a patient’s employment, relationships, and medical care. Dr Heidi Nicholl (CEO Emerge Australia) highlighted the need for medical professionals to be better educated in ME/CFS diagnosis.