OPA1 and Its Clinical Implications

Autosomal dominant optic atrophy (ADOA) or Kjer disease (MIM #165500) is a primary inherited nonsyndromic optic neuropathy that results in loss of retinal ganglion cells, leading to the clinical appearance of optic atrophy. It is caused by mutations in optic atrophy 1 (OPA1), a dynamin-related protein of the inner mitochondrial membrane. Recent evidence supports a role for OPA1 in the regulation of the process of cristae remodelling during apoptosis, by which the complete release of mitochondrial stores of cytochrome c is achieved, supporting a role for apoptosis in the pathogenesis of ADOA. Here we review the basic clinical features of ADOA, the biology of OPA1and its role in the regulation of mitochondrial shape changes during apoptosis.