Monday, 2 July 2012

Research: Mitochondrial dysfunction and the pathophysiology of CFS/ME

by Tony Britton on June 30, 2012

Int J Clin Exp Med 2012;5(3):208-220 ISSN:1940-5901/IJCEM1204005 Full text available HERE.

Mitochondrial dysfunction and the pathophysiology of Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME)

Norman E Booth (1), Sarah Myhill (2), John McLaren-Howard (3)

(1) Department of Physics and Mansfield College, University of Oxford,Oxford UK;

(2) Sarah Myhill Ltd, Llangunllo, Powys UK;

(3) Acumen, Tiverton, Devon UK


The objectives of this study are to test the hypothesis that the fatigue and accompanying symptoms of Chronic Fatigue Syndrome/Myalgic Encephalomyelitis are in part due to defects in energy provision at the cellular level, and to understand the pathophysiology of the defects so that effective medical intervention can be implemented.

We performed an audit of 139 patients (ages 18-65) diagnosed with CFS/ME and attending a private practice.

The patients and 53 normal, healthy controls had the ATP Profile test carried out on neutrophils from a 3-ml venous blood sample. This test yields 6 numerical factors that describe the availability of ATP and the efficiency of oxidative phosphorylation in mitochondria. Other biomedical measurements, including the concentration of cell-free DNA in plasma, were made.

The results of the audit are compared with the controls and a previous cohort of 61 patients. We find that all patients tested have measureable mitochondrial dysfunction which correlates with the severity of the illness. The patients divide into two main groups differentiated by how cellular metabolism attempts to compensate for the dysfunction.

Comparisons with exercise studies suggest that the dysfunction in neutrophils also occurs in other cells. This is confirmed by the cell-free DNA measurements which indicate levels of tissue damage up to 3.5 times the normal reference range.

The major immediate causes of the dysfunction are lack of essential substrates and partial blocking of the translocator protein sites in mitochondria. The ATP Profile is a valuable diagnostic tool for the clinical management of CFS/ME.

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