Symptoms associated with mitochondrial disease are heterogeneous and unpredictable. 17 m.3243A>G patients and 24 controls had 3D anatomical MRI brain scans, which were analysed to test the hypothesis that there are structural differences in patients that may potentially be used as biomarkers to predict symptoms. Results indicate head size is a possible surrogate biomarker for susceptibility to seizure-mediated strokes, but more detailed analysis did not provide any specific markers. Thinning of the cortex in the temporal poles appears to be directly related to the presence of the m.3243A>G point mutation and is an area to investigate further.
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