biostudies-literatureHaast RAMTechnology Foundation STWJoin4EnergyDutch Research Council (NWO)Ride4KidsNeMoMaastricht University, the Netherlands Organization for Scientific Research231-244https://www.ebi.ac.uk/biostudies/studies/S-EPMC5984598biostudies-literatureUnknown18One of the most common mitochondrial DNA (mtDNA) mutations, the A to G transition at base pair 3243, has been linked to changes in the brain, in addition to commonly observed hearing problems, diabetes and myopathy. However, a detailed quantitative description of m.3243A>G patients' brains has not been provided so far. In this study, ultra-high field MRI at 7T and volume- and surface-based data analyses approaches were used to highlight morphology (i.e. atrophy)-, microstructure (i.e. myelin and iron concentration)- and metabolism (i.e. cerebral blood flow)-related differences between patients (N = 22) and healthy controls (N = 15). The use of quantitative MRI at 7T allowed us to detect subtle changes of biophysical processes in the brain with high accuracy and sensitivity, in addition to NeuroImage. ClinicalAnatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.PMC598459812724452-11-002Smeets HJMSallevelt SCEHJansen JFAIvanov Dde Coo IFMFormisano EHaast RAMUludag KIJsselstein RJTfalseAnatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.One of the most common mitochondrial DNA (mtDNA) mutations, the A to G transition at base pair 3243, has been linked to changes in the brain, in addition to commonly observed hearing problems, diabetes and myopathy. However, a detailed quantitative description of m.3243A>G patients' brains has not been provided so far. In this study, ultra-high field MRI at 7T and volume- and surface-based data analyses approaches were used to highlight morphology (i.e. atrophy)-, microstructure (i.e. myelin and iron concentration)- and metabolism (i.e. cerebral blood flow)-related differences between patients (N = 22) and healthy controls (N = 15). The use of quantitative MRI at 7T allowed us to detect subtle changes of biophysical processes in the brain with high accuracy and sensitivity, in addition to 2018-01-01T00:00:00Z20182025-04-25T19:48:44.933Z2019-03-26T23:40:40ZS-EPMC59845982986844710.1016/j.nicl.2018.01.017