Foundation for Mitochondrial Medicine Awards Grant to Functional MRI Study Of Children with Mitochondrial Disease
ATLANTA, Ga., May 15 , 2012 – The Foundation for Mitochondrial Medicine, a US-based non-profit dedicated to funding research for the treatment of mitochondrial disease, has awarded a $10,000 grant to Dr. Robin Morris and his team of researchers at the Department of Psychology at Georgia State University for a joint research study at the Georgia State/Georgia Tech Joint Center for Advanced Brain Imaging. The research project will study brain function in 30 children with mitochondrial disease and in a control group of 30 children without mitochondrial disease using Functional Magnetic Resonance Imaging and other technology.
The aim of the study is to determine if children with oxidative phosphorylation (OXPHOS) defects in mitochondrial disease/dysfunction show indices of brain “fatigue” through testing by functional MRI (fMRI), diffusion tensor imagine (DTI) and neuropsychological testing. OXPHOS is a cellular metabolic process the body uses to turn oxidation of nutrients into energy.
The OXPHOS process uses approximately 95 percent of the oxygen delivered to tissues, and defects in this process can impact cellular energy functions throughout the body. While less than 2 percent of the adult human's body weight, at rest the brain consumes about 20 percent of the oxygen, making the study of active brain function using techniques such as fMRI a useful approach for understanding the impact of OXPHOS defects.
The study is evaluating the concept of cognitive fatigue in these children, many of whom have difficulty maintaining the necessary mental focus and sustained attention over typical periods of activities and learning, which impacts their performance in school and other activities. The study is an essential step in being able to perform large-scale epidemiological studies of mitochondrial disease using more widely available measures, and ultimately being able to implement clinical trials for new pharmaceutical agents emerging for treatment of such defects.
There is already evidence that OXPHOS defects are associated with changes in the brain's structure and function, and this study will integrate many types of information, including laboratory measures of OXPHOS defects, tests of neuropsychological functioning, measures of brain structure and function calibrated blood flow.
During the study, Dr. Morris and his team will conduct high-resolution anatomic brain scans to identify regions of interest for analyses of fMRI and diffusion tensor imaging (DTI) data to identify possible differences in white matter connectivity between the two groups of children (with and without OXPHOS). They will assess each child using thinking tasks that vary in degree of verbal working memory and sustained attention while undergoing functional MRI scans to evaluate changes in brain function over time.
The ultimate objective is to establish whether, and how, OXPHOS defects relate to the neurologic features of some children, causing rapid “cognitive fatigue.” Currently, such studies are difficult because definitive diagnosis of OXPHOS defects requires muscle biopsy and complex, unique genetic analyses.
The funding by the Foundation for Mitochondrial Medicine will enable Dr. Morris and his fellow researchers to study at least 10 participants in depth. Dr. Morris is a developmental neuropsychologist on the faculty in the Department of Psychology at Georgia State University and a licensed psychologist in the state of Georgia. He has an extensive history of studying children with both developmental and acquired neurological disorders, including studies of children with mitochondrial disease and autism. His fellow researcher Dr. Diana Robins has an extensive history of studying autism spectrum disorders and conducting fMRI studies, and Dr. Tricia King has been conducting fMRI and DTI studies with children and adults with a variety of acquired neurological disorders for many years as well.
The Foundation for Mitochondrial Medicine’s mission is to support the development of the most promising research and treatments of the many forms of mitochondrial disease. In addition to the current grant, the Foundation is currently funding drug compound research by Dr. Jan Smeitink of Khondrion in the Netherlands, and has funded an FDA-approved drug trial in 2010. Mitochondrial disease is an energy production problem that occurs when the cell’s mitochondria, or “power plants,” don’t function properly and create an energy crisis. The disease primarily affects brain, heart and muscle cells in varying degrees. More than 1 in 2,500 are affected by mitochondrial disease, and the treatments and cures for mitochondrial disease can impact cures for related diseases like Autism, Alzheimer’s, Parkinson’s, and muscular dystrophy among others. For more information on the Foundation and information about funding of specific research projects, please visit www.mitochondrialdiseases.org.
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