Multimodal sequencing (gene expression, chromatin accessibility, and mtDNA genotyping) of single cells of the RPE and choroid in human MELAS (m.3243A>G) and control samples

The mitochondrial m.3243A>G variant is known to cause retinal dystrophy and vision loss. We used single cell multimodal sequencing to understand how the presence of this mutation affects cellular phenotype in a cell type-specific manner. Overall design: Human retinas were dissected to isolate the RPE/choroid (RPE/choroid) or RPE was mechanically dissected away from Bruch's membrane (purified RPE). RPE/choroid samples were then dissociated to single cells using collagenase. Samples from a MELAS patient and age/sex-matched healthy control donor were prepared.