Thursday, March 17, 2011

CDMRP-Funded Mitochondrial Dysfunction GWI Study Recruiting in Atlanta, Ga.

Study Recruitment Material - Mechanisms of Mitochondrial Dysfunction in Gulf War Syndrome
Funding: DOD, GW080138
Principal Investigator: John Shoffner, M.D.

Study Rationale:

Gulf War syndrome (GWS) is associated with increased incidences of amyotrophic lateral sclerosis, pain syndromes, muscle complaints that include fatigue and myalgias, as well as other neurological symptoms. Approximately 100,000 individuals of the 700,000 veterans deployed in 19901991 Gulf War have medical complaints consistent with GWS. Clinical manifestations are similar to those identified in Chronic Fatigue Syndrome (CFS). Abnormalities in the part of the cell known as mitochondria have been delineated in GWS and CFS. We propose that GWS is determined by a complex interaction of variables that impair mitochondrial function that include genetic susceptibility, pre-Gulf War exposures, Gulf War associated exposures, and aging. This study will be the first comprehensive investigation of mitochondrial function in GWS. Our objective is to establish the cause for symptoms in affected veterans, develop testing that can more easily identify GWS, and ultimately develop treatment protocols for GWS.

The mitochondria have many functions that include changing the foods we eat into a usable form of energy known as ATP (adenosine triphosphate). All the cells of our body use this energy to run the biochemical reactions that allow our cells to function properly. Hence, the mitochondria act as tiny power plants inside of every cell. These power plants also utilize about 95% of the oxygen that we breathe. When the energy (ATP) is produced at normal levels, the cells function normally. When the energy (ATP) is reduced, the cells develop a variety of problems (analogous to a city during a brown out where energy dependent functions begin to fail). The central nervous system and muscle are often affected. These diseases can have their onset at any age and can even be triggered by exposure to certain chemicals and drug exposures. Multiple lines of evidence from the literature and from patients studied in our laboratory suggest that the mitochondria are not functioning properly in GWS and in CFS. Hence, detailed investigation of mitochondrial dysfunction in GWS is a priority.

Over the last two decades, our group has been dedicated to working with patients with mitochondrial defects. Over the years, we described many inherited mutations and biochemical defects that impair mitochondrial function. Our proposal is unique in that we integrate a variety of specialized laboratory techniques that characterize mitochondrial function into a comprehensive investigation. Our proposal is designed to characterize mitochondrial function in 50 veterans with GWS using blood and skin cells.

We will be investigating the skin and blood cells by characterizing precisely how mitochondria are working through detailed investigation of mitochondrial enzyme function, of mitochondria within living cells, of mitochondrial proteins, and of mitochondrial genes.

  • Please review the consent form for the study for a complete discussion of the study procedures and risks.
  • Participation in the study will take approximately 1.5-2.0 hours of your time.
  • The procedures performed during this visit are a clinical evaluation by Dr. Shoffner, drawing blood, and a small skin biopsy from the arm.
  • Once again the consent form discusses the study and the procedures in detail.
  • Dr. Shoffner will answer your questions about the study.



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