Non-invasive screening for peripheral oxygenation dysfunction in healthy and pathological populations

Metabolic myopathies are diseases where muscle dysfunction acts as one of the major symptoms, usually caused by genetic defects or hormonal dysfunction. These myopathies comprise several subgroup diseases resulting from defects in biochemical energy metabolism. Mitochondrial Myopathy (MM) is one of these subgroups. Initial research to unravel underlying mechanisms started in the late 1980's with the discovery of large scale mitochondrial DNA (mtDNA) mutations. During the past decades, the primordial focus was of course the severe phenotype of this disease, whereby less attention was given to mild types of this myopathy. An important symptom in this MM population is a disturbed peripheral oxygenation pattern at muscle level, resulting from mitochondrial malfunctioning. Interestingly, the last two decades, several studies have investigated muscle abnormalities in another patient population as well, i.e. Chronic Fatigue Syndrome (CFS). This latter disease is based on exclusion criteria and requires four out of eight minor criteria for diagnosis. It is remarkable however, that muscle pain, post-exertional malaise, and muscle fatigue are included in these criteria. A number of papers have already focused on a putative disturbed peripheral oxygenation pattern in these CFS patients, however, with contrasting results. In this dissertation we aimed to focus on peripheral oxygenation in both patient and healthy populations. To investigate in particular how patients with a disturbed oxygenation pattern, probably due to mitochondrial malfunctioning, could be identified in a non-exhaustive and non-invasive way. Because both diseases are quite "young" and little is known about eventual mild phenotypes of mitochondrial myopathy, we wanted to make a contribution in this scientific area by developing a screening tool to identify such patients. In the first part of this dissertation, we aimed to present a short introduction about peripheral oxygenation in healthy subjects from a historical perspective. Consequently, in the second part of the introduction, a description of both MM and CFS diseases and their exercise tolerance spectrum is presented as well as peripheral oxygenation patterns in these patient populations.

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