The role of mitochondria in ME/CFS: a perspective

ABSTRACT

Chronic fatigue syndrome (CFS) also known as Myalgic encephalomyelitis (ME) is a debilitating disease, characterized by the symptom of severe fatigue. ME/CFS is a heterogeneous condition in both clinical presentation and disease duration. A diagnosis of ME/CFS is based on the exclusion of other diseases due to a current lack of known biomarkers for the disease. Patients may be split into categories based on the severity of their illness – mild, moderate and severe. Here we consider some of the recent advances in the understanding of mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation that may have relevance to ME/CFS. Thus far, we have shown that ME/CFS patients do not harbor proven mtDNA mutations, another exclusion, albeit an important one. As such this group of patients do not fall within the category of patients with mitochondrial disorder. If ME/CFS patients have some form of mitochondrial dysfunction, the form and cause of this dysfunction is a matter of debate. The current data underlines the need to move from small studies to larger endeavors applying multiple methods to well-defined cohorts with samples taken longitudinally.

KEYWORDS:

• Chronic fatigue syndrome
• myalgic encephalomyelitis
• mitochondria
• bioenergetics
• mitochondrial DNA

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This work was supported by Action for ME [grant number RES/0200/7841 (to JLE)].

Notes on contributors

Cara Tomas

Cara Tomas is a research associate at Newcastle University with an interest in ME/CFS research. Her publications in ME/CFS cover various aspects of the disease including HPA-axis dysfunction, cardiac abnormalities, mitochondrial function, and biomarkers.

Joanna L Elson

Joanna L Elson is a Lecturer in Mitochondrial Genetics at Newcastle University. A prominent theme entails the role of mtDNA variation in complex traits. This area has been very controversial over the years, with a myriad of conflicting results to be found in the literature. I am developing new models to link mtDNA variation to complex traits. An emerging theme looks at the role of mitochondria and mtDNA in chronic fatigue syndrome (CFS), also referred to as myalgic encephalomyelitis (ME).