Mechanisms of Mitochondrial Defects in Gulf War Syndrome
The purpose of the study is to investigate possible causes for Gulf War Syndrome. Gulf War Syndrome is associated with increased incidences of amyotrophic lateral sclerosis (Lou Gehrig's Disease), pain syndromes, muscle complaints that include fatigue and myalgias (muscle pain), as well as other neurological symptoms. Abnormalities in the part of the cell known as mitochondria have been delineated in Gulf War Syndrome. Mitochondria are the "power plants" of the body. Mitochondria take the food you eat and break the food down into a form of energy that the body can use. The investigators propose that Gulf War Syndrome is determined by a complex interaction of factors that interfere with mitochondrial function. This study will be the first investigation of mitochondrial function in Gulf War Syndrome. The investigators objective is to establish the cause for symptoms in affected veterans, develop testing that can more easily identify Gulf War Syndrome, and ultimately develop treatment protocols for Gulf War Syndrome.
Gulf War Syndrome
Procedure: Skin biopsy
Procedure: Blood Collection
|Study Design:||Observational Model: Case-Only
Time Perspective: Cross-Sectional
|Official Title:||Mechanisms of Mitochondrial Defects in Gulf War Syndrome|
- Characterize mitochondrial cellular energetics in Gulf War Syndrome patients [ Time Frame: approximately 2 years; once all data has been collected from study participants ] [ Designated as safety issue: No ]After collecting a skin and blood sample, mitochondrial cellular energetics in Gulf War Syndrome patients will be characterized by: 1. high resolution respirometry of intact cells, 2. quantitative analysis of individual mitochondrial proteins, 3. analysis of intact OXPHOS enzyme complexes and supercomplexes, 4. in gel enzyme activity assessment of intact OXPHOS enzyme complexes and supercomplexes, 5. mitochondrial DNA (mtDNA) copy number quantitation to assess for defects in regulation mtDNA replication and 6. cellular coenzyme Q10 quantitation.
- Mitochondrial DNA [ Time Frame: approximately 2 years; once all data has been collected from study participants. ] [ Designated as safety issue: No ]Assess the mitochondrial DNA (mtDNA) from each patient with Gulf War Syndrome for mtDNA mutations by whole genome sequencing of leukocyte and skin cell mtDNA.
Biospecimen Retention: Samples With DNA
whole blood and tissue
|Study Start Date:||May 2009|
|Study Completion Date:||June 2013|
|Primary Completion Date:||June 2013 (Final data collection date for primary outcome measure)|
Gulf War Syndrome patients
Gulf War veterans who have been diagnosed with Gulf War Syndrome.
Procedure: Skin biopsy
A small skin sample will be obtained from the patients arm which is approximately the size of the top of a thumbtack (a small circle no more than a 1/4 inch across)
Other Name: skin sampleProcedure: Blood Collection
Approximately 45ml or 3 tablespoons for blood will be drawn from a vein in the patient's forearm.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01264471
|United States, Georgia|
|Medical Neurogenetics, LLC|
|Atlanta, Georgia, United States, 30342|
|Principal Investigator:||John M Shoffner, MD||Medical Neurogenetics|