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

ABSTRACT:

Purpose

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 retinal and cortical function since they are tightly linked in health and disease. Autosomal dominant optic neuropathy (ADOA) is a mitochondrial disease that affects the ganglion cell. However, it is unknown whether alterations are also present in the visual cortex, namely in excitation/inhibition balance.

Methods

In this study, we performed in vivo structural and biochemical proton magnetic resonance imaging in 14 ADOA and 11 age-matched control participants focusing on the visual cortex, with the aim of establishing whether in this genetically determined disease an independent corti

SUBMITTER: d'Almeida OC 

PROVIDER: S-EPMC6224020 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature