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Psychologists get grant to study mitochondrial disease

Tuesday, May 15, 2012 – Ann Claycombe

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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 Robin Morris and a team of researchers at the Department of Psychology at Georgia State University for a  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 (fMRI) and other technology.   

The study will focus in on a process called oxidative phosphorylation, or OXPHOS, a cellular metabolic process the body uses to turn nutrients into energy. Roughly 95 percent of the oxygen in human tissues goes to OXPHOS. Mitochondrial -disease-related defects in this process affect cells’ functioning and energy.  

The brain is a particularly intensive user of oxygen – while it is less than 2 percent of the adult human’s body weight, the brain consumes about 20 percent of the body’s oxygen, at least when the subject is at rest. 

Many children who have mitochondrial disease show difficulty maintaining the necessary mental focus and sustained attention over typical periods of activities and learning, affecting their performance in school and elsewhere. Morris and his team will explore the links between mitochondrial disease, OXPHOS defects, neuropsychological functioning, measures of brain structure, and function-calibrated blood flow.

During the study, 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.

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.  

Robin Morris is a Regents Professor of Psychology, as well as the university’s Associate Provost for Strategic Initiatives and Innovation.  He has an extensive history of studying children with both developmental and acquired neurological disorders, including studies of children with mitochondrial disease and autism.  The team also includes Diana Robins, an associate professor of psychology at GSU, who has an extensive history of studying autism spectrum disorders and conducting fMRI studies; and Tricia King, associate professor of psychology, who 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’s mission is to support the development of the most promising research and treatments of the many forms of mitochondrial disease. For more information on the Foundation and information about funding of specific research projects, please visit www.mitochondrialdiseases.org.