Chronic fatigue syndrome, often dismissed as the imaginings of depressed and whiny people, is caused by genetic mutations that impair the central nervous system's ability to adapt to stressful situations, according to a major new study by the Centers for Disease Control and Prevention.
Small changes in many of the genes in the brain prevent the nervous system from rebounding from everyday stress and from less frequent, stronger pressures, eventually triggering a cascade of molecular responses that leave the patient severely debilitated, researchers reported Thursday in 14 separate papers in the journal Pharmacogenomics.
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Data in hand, the CDC assembled four independent teams — each containing experts in medicine, mathematics, molecular biology and computer science — and challenged them to interpret the results. Each team produced two or three of the new papers, and their results were surprisingly consistent.
The teams found that there were at least four distinct forms of the disease, each with its own genetic profile and symptoms but all including disabling fatigue. Some had relatively mild symptoms, whereas others were debilitating.
But all the forms shared genetic mutations — technically called single nucleotide polymorphisms — related to brain activity that mediated the response to stress.
In particular, five polymorphisms in three genes were "very important," said Dr. Suzanne Vernon of the CDC, co-leader of the study. Those polymorphisms alone were sufficient to diagnose about 75% of cases.
The genetic findings are particularly important because they can lead to new drugs, said Dr. K. Kimberly McLeary, president and chief executive of the Chronic Fatigue and Immune Dysfunction Syndrome Assn. of America.
"Pharmaceutical companies have been sitting on the sidelines because they have not been able to get their hands around CFS," she said. "This gives them something to latch onto" and identifies treatment possibilities that haven't been explored.
The teams also found a strong correlation between the severity of CFS and what they called allostatic load, the cumulative wear and tear on the body resulting from chronic or inadequate adaptation to stressors — such as changes in everyday routine, disease, and physical and emotional trauma.
The CDC is gearing up to attempt to replicate the findings in a study of 30,000 people in Georgia, Reeves said.
http://www.latimes.com/news/science/la-sci-fatigue21apr21,0,6152443.story?coll=la-home-headlines---
My partner is very disabled by this disorder, and we are so pleased that the CDC did this study and we now have some solid answers to what causes it. Hopefully this research will lead to new treatments for her and others so that they can have normal lives again.
It makes sense that there is a genetic basis because it seems to run in families where there are autoimmune conditions. For example, my partner's mother has rheumatoid arthritis, as did her maternal grandmother. We actually thought she had RA first but she tested negative. She also has some symptoms of lupus but not enough for a diagnosis.
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