Peering Beneath the Turbulent waters of CFS: Gene Expression Profiling Provides Hope
By Craig Maupin at http://cfidsreport.com
I remember when my father purchased our first sonar fish finder. At the time, it was a modern and exciting technology. Unlike today’s state-of-the-art fish finders, it hissed, it whirred, and it was crude. Despite its clunky appearance, it quickly became apparent just how powerful our new tool could be. For the first time, the behavior of the fish and aquatic life below the lake surface became readily visible. It was obvious that the familiar places we habitually fished only looked promising on the surface. We had previously wasted a lot of effort by placing our bait in the wrong regions of our favorite fishing hole.
Medical research into emerging illnesses, including research pertaining to CFS, can be the same way. One can only wonder how much CFS research efforts have been wasted mining unproductive waters, as well as how many fruitful waters remain unexplored. Due to the uncertainty about CFS, it is very difficult to get a clear picture of where to place research efforts. But that uncertainty could change, as a new technology can help to pinpoint the physiological differences between CFS and healthy patients. Like our vintage fish finder, this newly discovered tool can look below the surface, painting a clearer picture of a disease in process.
As we speak, the CDC is conducting gene expression profiling on CFS patients -- taking a look at the “messages” sent between cells by using gene expression on the peripheral blood of PWC’s (people with CFS). Early returns have shown this technique has potential. In a “proof of concept” study, gene expression profiling was able to distinguish between CFS samples and healthy controls.
The preliminary study, published in the research journal Disease Markers, examined 1794 specific genes, a small portion of the total amount of genes that researchers eventually hope to profile. The study was able to classify 5 CFS (women who had the illness from 2-6 years) patients from 17 healthy controls, using a statistical analysis of the gene expression. The study also demonstrated that the differential gene expression was most prevalent among genes that are involved with immune function. Some of the genes that were expressed differently in CFS patients than in healthy controls were:
CMRF35 antigen precursor - This gene was the only gene detected that was differently expressed by each statistical analysis employed by the researchers. It encodes a cell membrane antigen that is thought to be involved in the interaction between T cells and the targeting of cells to be destroyed. The expression of this gene dovetails with previously published research that has established differences in natural killer cell surface markers in CFS.
Interleukin 8- This cytokine is involved with tissue inflammation. It was significantly downregulated in the CFS samples but not in the healthy controls.
HD Protein - HD protein stands for Huntington’s Disease Protein (or Huntingtin’s). Huntington’s Disease is a inherited and progressively fatal disease caused by a mutant form of this protein. CFS patients do not have Huntington’s disease nor do they have the gene that causes it. Every cell has normal HD protein. Recent studies have suggested that there may be a link between the normal HD protein and neurological damage in diseases such as Alzheimers and Parkinson’s.
The study’s authors caution that this was a “proof of concept” study rather than a final product. Also, it is important to remember that results of gene expression research do not completely resolve which genes expressed may be relevant to the condition or which are affected by the disease. In this study, the number of genes examined, as well as the number of patients involved, was small. CFS research is complicated by the possibility that different CDC CFSCRC centers may actually be researching different illnesses under the broad CFS case definition.
There has been a misconception that this research is involved with genes related to heredity. The gene expression research being performed by the CDC uses peripheral blood samples to look at disease processes through the communication between cells, rather than genes pertaining to heredity. Studies using RNA gene expression can reveal if disease processes are immunological, neuroendocrine, or metabolic.
In the coming months, the CDC will be releasing the results of similar studies looking at both a larger group of patients and a larger group of genes. By using genetic expression profiling, researchers hope to gain valuable information with which to form a more complete picture of CFS. They also hope this research may aid them in steering their efforts to areas that will be more likely to yield success.
This research could be a breath of fresh air for some embattled CFS researchers and patients. Many researchers who have invested years in researching CFS feel drained and speak of spending valuable time fighting political battles and addressing critics rather than doing the laboratory research they enjoy. CFS has lost many talented researchers because they have found that the combative political atmosphere and low funding in CFS research are too much of a hassle. Perhaps this research will have a positive effect for these researchers, as well as restore some PWC confidence in the CFS research wing of the CDC.
If CFS researchers are often beleaguered, then the situation is mirrored by many of those who suffer from CFS. Many PWC’s have not been supported by the publicly funded safety net and lack adequate health care usually provided by to the sufferers of other illnesses with biomarkers. Many lose friends and family simply because they appear to be healthy and no tests can confirm their symptoms. Emerging genetic technology may offer a refreshing ray of hope for the CFS patient community as well. Perhaps through genetic expression profiling, we will better understand what lies behind the turbulent surface of the enigma of Chronic Fatigue Syndrome. Through genetic profiling, what many researchers and CFS sufferers have been telling the world will become clear, breaking an impasse of misunderstanding. Soon, this new research technology may begin to reveal what we who suffer from CFS have known all along, that CFS is more than skin deep.