We targeted 612 metabolites in plasma from 63 biochemical pathways by hydrophilic interaction liquid chromatography, electrospray ionization, and tandem mass spectrometry in a single-injection method. Patients with CFS showed abnormalities in 20 metabolic pathways. Eighty percent of the diagnostic metabolites were decreased, consistent with a hypometabolic syndrome...More on dauer, which resembles hibernation, but is not the same thing:
Our data show that despite the heterogeneity of factors leading to CFS, the cellular metabolic response in patients was homogeneous, statistically robust, and chemically similar to the evolutionarily conserved persistence response to environmental stress known as dauer.
Many of the pathways and metabolites that were abnormal in CFS are also known to be features of dauer, a well-studied, long-lived survival and persistence state triggered by environmental stress...This is really quite interesting, since most people probably have a bias toward assuming that "chronic fatigue" is a psychological or emotional disorder. The idea that it is a mitochondrial disorder is thought-provoking.
The developmental stage of dauer is a hypometabolic state capable of living efficiently by altering a number of basic mitochondrial functions, fuel preferences, behavior, and physical features. Dauer is comprised of an evolutionarily conserved and synergistic suite of metabolic and structural changes that are triggered by exposure to adverse environmental conditions. Entry into dauer confers a survival advantage in harsh conditions. When the dauer response is blocked by certain mutations (dauer defectives), animals are short-lived when exposed to environmental stress. These mutations show that the latent ability to enter into a hypometabolic state during times of environmental threat is adaptive, even though it comes at the cost of decreasing the optimal functional capacity..
"Dauer," btw, is the German word for "duration."
So, could there be a genetic test for CFS?
ReplyDeleteI'm not sure whether there could be a "genetic" test, because I don't know whether the mitochondrial change is inherited or acquired. But there might be a laboratory test that would help define and identify the syndrome and distinguish it from malingering and psychopathology.
DeleteInteresting, I am on the record as being skeptical of Chronic Fatigue Syndrome as a waste-bin diagnosis. People are obviously suffering, but the notion that it would turn out to have a consistent cause instead of just being a collection of things we don't understand yet seemed unlikely. This is fascinating because it is always nice to see good evidence that goes against ones preconceived notions.
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