AFG3L2 mutations and their role in dominant optic atrophy


  • Mutations in the gene encoding the mitochondrial protein AFG3L2 impact on processing of OPA1, also present in the mitochondria and involved in oxidative phosphorylation, and drive dominant optic atrophy (DOA).

Why this matters

    This study adds further information which will improve diagnosis of optic neuropathies (both pure and syndromic).