Mitochondria in Retinal Neurodegeneration and Stem Cell Models

Abstract

Defects in mitochondrial energetics result in several retinal diseases, providing unresolved clues to why some retinal neurons are specifically affected by mitochondrial dysfunction. The central mitochondrial pathway of energy generation—oxidative phosphorylation—presents unique challenges for unravelling the genetic and molecular mechanisms of neuronal susceptibility to energetic failure. This is due to the chimeric assembly of the constituent enzyme complexes from subunits encoded by both the mitochondrial (mt) DNA and nuclear genome. Stem cell modelling of mtDNA and nuclear gene-linked retinal disease hold great promise to advance this understanding, while at the same time providing new t..