ArticleNeuroImage. Clinical2018
Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.
Article in NeuroImage. Clinical, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Volumetric and functional connectivity alterations of the thalamus and thalamic nuclei groups in drug-resistant focal epilepsy: A 7T MRI study.Neuroradiology · 2026Article
- Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.Nature communications · 2026Article
- Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study.JIMD reports · 2026Article
- Widespread and progressive brain atrophy is a common feature in patients with mitochondrial disease.Journal of neurology · 2025Observational
- The Matrix of Mitochondrial Imaging: Exploring Spatial Dimensions.Biomolecules · 2025Review
- Pilot study of circulating cell-free mitochondrial DNA in relation to brain structure in youth bipolar disorder.International journal of bipolar disorders · 2024Article
- The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models.International journal of molecular sciences · 2023Review
- A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report.Iranian journal of public health · 2022Article
- Visual memory failure presages conversion to MELAS phenotype.Annals of clinical and translational neurology · 2022Article
- Value of ultra-high field MRI in patients with suspected focal epilepsy and negative 3 T MRI (EpiUltraStudy): protocol for a prospective, longitudinal therapeutic study.Neuroradiology · 2022Article
- Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients.Brain communications · 2022Article
- Improving PCASL at ultra-high field using a VERSE-guided parallel transmission strategy.Magnetic resonance in medicine · 2020Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 typically assessed lesions and atrophy. Furthermore, the effect of m.3243A>G mutation load in blood and urine epithelial cells on these MRI measures was assessed within the patient population and revealed that blood levels were most indicative of the brain's state and disease severity, based on MRI as well as on neuropsychological data. Morphometry MRI data showed a wide-spread reduction of cortical, subcortical and cerebellar gray matter volume, in addition to significantly enlarged ventricles. Moreover, surface-based analyses revealed brain area-specific changes in cortical thickness (e.g. of the auditory cortex), and in T
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