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Wolfson Brain Imaging Centre

Department of Clinical Neurosciences

Defective mitochondrial function in vivo in skeletal muscle in adults with Down’s syndrome.

A novel and patient friendly method for measuring PCr kinetics post exercise has been designed and developed here at the WBIC by Dr Alison Sleigh, which has enabled the study of mitochondrial function in vivo in cohorts of people with reduced intellectual ability.

We have collaborated with researchers at the Cambridge Intellectual and Developmental Disabilities Research Group (CIDDRG) to publish the first study to investigate mitochondrial function in vivo in people with Down’s syndrome (DS) using 31P-MRS.  Our finding of defective mitochondrial function in skeletal muscle of adults with DS, compared with physical activity matched controls with an intellectual disability without DS, is consistent with previous in vitro studies and supports a theory of a global mitochondrial defect in DS.

Publication at PLOS ONE.