Mitochondrial pathophysiology beyond the retinal ganglion cell: occipital GABA is decreased in autosomal dominant optic neuropathy

• DOI: 10.1007/s00417-018-4153-z
• Publication Date: 2018-10-14T23:29:17Z
• Authors: Otília C. d’Almeida; Inês R. Violante; Bruno Quendera; Miguel Castelo-Br...
• Keywords: Neurochemical

It has remained a mystery why some genetic mitochondrial disorders affect predominantly specific cell types such as the retinal ganglion cell. This is particularly intriguing concerning and cortical function since they are tightly linked in health disease. Autosomal dominant optic neuropathy (ADOA) disease that affects However, it unknown whether alterations also present visual cortex, namely excitation/inhibition balance.In this study, we performed vivo structural biochemical proton magnetic resonance imaging 14 ADOA 11 age-matched control participants focusing on with aim of establishing genetically determined an independent neurochemical phenotype could be established irrespective putative phenotype. Cortical thickness anatomically defined areas was estimated, voxel-based morphometry approach used to assess occipital volumetric changes ADOA. Neurochemical measurements were focused γ-aminobutyric acid (GABA) glutamate, indicators local excitatory/inhibitory balance.We found evidence for reduced GABA preserved glutamate concentrations absence or subcortical atrophy. These levels explained by neither nor functional measures loss, suggesting developmental origin.These results suggest previously believed only may physiology, especially GABAergic system, brain inhibition vs. excitation. phenotype, sensory loss atrophy presence levels, suggests change at level, leading pathophysiological imbalance.