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      Mitochondrial dynamics and disease, OPA1.

      Biochimica et Biophysica Acta
      GTP Phosphohydrolases, chemistry, genetics, metabolism, GTP-Binding Proteins, Humans, Mitochondria, pathology, Mitochondrial Proteins, Mutation, Optic Atrophy, Autosomal Dominant, Saccharomyces cerevisiae Proteins, Yeasts

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          Abstract

          The mitochondria are dynamic organelles that constantly fuse and divide. An equilibrium between fusion and fission controls the morphology of the mitochondria, which appear as dots or elongated tubules depending the prevailing force. Characterization of the components of the fission and fusion machineries has progressed considerably, and the emerging question now is what role mitochondrial dynamics play in mitochondrial and cellular functions. Its importance has been highlighted by the discovery that two human diseases are caused by mutations in the two mitochondrial pro-fusion genes, MFN2 and OPA1. This review will focus on data concerning the function of OPA1, mutations in which cause optic atrophy, with respect to the underlying pathophysiological processes.

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