Patient-Specific Human Induced Pluripotent Stem Cells for Mitochondrial Diseases
Abstract
Mitochondria are the energy powerhouse of the cell and are intimately involved in the active function of many key tissues that include the brain, heart, and skeletal muscles. Mutations in mitochondrial DNA (mtDNA) are associated with a wide range of human diseases; however, there are no cures for mitochondrial disorders. Available treatments only improve symptoms and slow disease progression. Leigh s Syndrome (LS) is a classic mitochondrial disease, and it has no current cure and no adequate model for understanding the rapid fatality associated with the disease. Fatality with LS results from excess accumulation of mutant mtDNA molecules leading to failure of mitochondrial bioenergetics. Other symptoms of LS usually include developmental, neural, cardiac, and muscle impairments resulting in a chronic lack of energy in these patients. Reverse engineering adult cells into the early master stem cell state will now allow us to create disease-specific and patient-specific stem cells that can subsequently be differentiated into the many cells and tissues of the human body. This approach is key to developing novel research tools to permit a better understanding of the role of increased percentage of mutant versus healthy DNA in regulating cellular differentiation. Results from this study will also tell us whether an increased percentage of mutant mtDNA will affect neurons and muscles that impact disease progression. Such customized experimental outcomes will allow us to better develop disease models for understanding the problem in the civilian population and also for genetic testing of mitochondrial bioenergetic deficiency diseases in military children with global developmental delays and intellectual disabilities.
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Jan 31, 2017
- Source ID
- W81XWH1610181
Entities
People
- Shilpa Iyer
Organizations
- United States Army
- University of Arkansas