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2012 Grants - Roby
A Longitudinal Study of the Changes in mtDNA of Alzheimer's Patients
Rhonda K. Roby, Ph.D., M.P.H.
University of North Texas Health Science Center
Fort Worth, Texas
2012 New Investigator Research Grant
Most of the genetic material (DNA) of a cell resides in the cell's nucleus, but some DNA is found inside mitochondria, which are specialized components of the cell that provide usable sources of energy to the cell. During the onset and progression of Alzheimer's disease, mitochondria are known to become impaired. This impairment may be caused in part by accumulating mutations in mitochondrial DNA (mtDNA).
Studies have shown the mtDNA from the brain and the blood has increasing numbers of mutations during the progression of Alzheimer's disease. However, this observation has not been studied in detail, and its implications are not well understood.
Rhonda K. Roby, Ph.D., M.P.H., and colleagues have proposed to study changes in mtDNA over time in older people who have Alzheimer's disease, mild cognitive impairment or who are healthy. Using blood samples from an ongoing study, the researchers will sequence each participant's mtDNA at different times during a 4-year period. They will quantify the number of genetic mutations that accumulate, and determine if the number or type of mutations can be used to diagnose Alzheimer's disease.
Dr. Roby's team will also study the genes affected by each mutation in an effort to understand how mutations affect mitochondrial function. These studies will enhance our understanding of mtDNA function in healthy aging and in Alzheimer's disease, and may yield new approaches for diagnosing and treating the disease.