Mitochondrial DNA copy number in CFS
Research type
Research Study
Full title
Mitochondrial DNA copy number in the blood of those with Chronic Fatigue Syndrome (CFS), with a focus on circulating mtDNA
IRAS ID
221364
Contact name
Joanna Elson
Contact email
Sponsor organisation
Newcastle Hospitals NHS Foundation Trust
Duration of Study in the UK
0 years, 11 months, 30 days
Research summary
Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition affecting ~250,000 people in the UK. The fatigue is not alleviated by sleep or rest having a substantial impact on the lives of patients, leaving some bed-bound and in chronic pain. Mitochondria are the “powerhouse” of the cell, the organelle (sub-unit) producing a chemical called ATP that drives cellular functions. Uniquely among the organelles of our cells, mitochondria have their own chromosome, called mitochondrial DNA (mtDNA). MtDNA codes for 13 proteins essential for the cell to produce energy. MtDNA is present in hundreds or thousands of copies within a cell. This mtDNA “copy number” is variable by cell type and between individuals. Mitochondrial patients frequently have mutations of mtDNA. A recent study conducted at Newcastle University by members of the fatigue group in collaboration with the mitochondrial group found that mitochondrial patients suffer from severe fatigue, comparable in 30% of case with CFS patients. Thus, there is growing interest in the role of mitochondria in fatigue, and in CFS. However, a mtDNA sequencing study of 300 CFS patients did reveal any clinically proven mtDNA mutations. Therefore, sequencing mtDNA in CFS patients is unlikely to reveal clinically proven mutations, which would change their diagnosis or could be transmitted to their offspring. However, some studies suggest that mtDNA population variants and changes in mtDNA copy number are associated with different outcomes in complex disease such as diabetes or Parkinson’s, while not causing the disease. Although this work is still a matter of scientific investigation. We would like to conduct analysis on the blood of CFS patients to determine if at a cohort level there are differences in the mtDNA between the patient cohort and controls. Our hope would be that we could elucidate mechanisms of disease, or be able to provide better prognostic information.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
17/SC/0147
Date of REC Opinion
8 Jun 2017
REC opinion
Further Information Favourable Opinion