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Show 129 school of medicine and health sciences Neurofibromatosis type 1 (NF1) is a genetic disorder causing varying symptoms including neurofibro-mas, learning disabilities, bone defects, and optic gliomas. Individuals with NF1 also report muscle weakness and fatigue. We hypothesize that individuals with NF1 have an underlying mitochondrial dysfunction resulting in decreased energy expenditure, increased lactate levels, increased weakness, and fatigue. A better understanding of indicators of mitochondrial dysfunction in NF1 will help inform clinical trials for pharmacologic agents typically utilized in mitochondrial disorders for translation to NF1. This study is conducted in an exercise physiology lab testing adults with NF1 compared to age- and sex-matched healthy controls. The maximum oxygen levels were collected during activity using stationary bicycles in which levels were increased thirty-five watts every five minutes in correla-tion with lactate levels from a finger prick. The maximum power test was a short three to four second sprint in which maximum power was measured. Mean aerobic capacity (VO2 peak) was decreased in individuals with NF1 (NF1=1.38 L/min; controls=1.76 L/min). Mean single leg maximum power was decreased in individuals with NF1 (NF1=179 RPM; controls=231RPM). Final mean lactate levels were higher in individuals with NF1 (NF1=7.3 mmole; controls 6.5 mmole). However, given the small num-bers in our cohort additional participants are needed for statistical significance. We are in the process of continuing testing in a larger cohort. Overall, as suggested by our preliminary data, we expect the NF1 individuals to have evidence of mitochondrial dysfunction with decreased energy expenditure. ENERGY EXPENDITURE IN NEUROFIBROMATOSIS TYPE 1 Connorie J. Murray, Heather I.B. Hanson (David Stevenson) Department of Pediatrics University of Utah UNDERGRADUATE RESEARCH ABSTRACTS Connorie J. Murray David Stevenson |
