Chromatin accessibility and mitochondrial genotype from single cells of the retina and choroid in human MELAS (m.3243A>G) and control samples [scATAC-seq]

The mitochondrial m.3243A>G variant is known to cause retinal dystrophy and vision loss. We used mitochondria single cell ATAC sequencing to measure nuclear chromatin accessibility and mitochondrial heteroplasmy in single cells of the retina and choroid. Overall design: Human retinas were dissected into neural retina and RPE/choroid from two regions (macular and peripheral). Samples were then dissociated to single cells using papain or collagenase respectivley. Samples from a MELAS patient and age/sex-matched healthy control donor were prepared.