miR-181a/b downregulation exerts a protective action on mitochondrial disease models

EMBO Mol Med. 2019 May;11(5):e8734. doi: 10.15252/emmm.201708734.

Abstract

Mitochondrial diseases (MDs) are a heterogeneous group of devastating and often fatal disorders due to defective oxidative phosphorylation. Despite the recent advances in mitochondrial medicine, effective therapies are still not available for these conditions. Here, we demonstrate that the microRNAs miR-181a and miR-181b (miR-181a/b) regulate key genes involved in mitochondrial biogenesis and function and that downregulation of these miRNAs enhances mitochondrial turnover in the retina through the coordinated activation of mitochondrial biogenesis and mitophagy. We thus tested the effect of miR-181a/b inactivation in different animal models of MDs, such as microphthalmia with linear skin lesions and Leber's hereditary optic neuropathy. We found that miR-181a/b downregulation strongly protects retinal neurons from cell death and significantly ameliorates the disease phenotype in all tested models. Altogether, our results demonstrate that miR-181a/b regulate mitochondrial homeostasis and that these miRNAs may be effective gene-independent therapeutic targets for MDs characterized by neuronal degeneration.

Keywords: LHON; miR‐181; microRNA; mitochondrial disease; neurodegeneration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autophagy / genetics
  • Cell Death
  • Cell Line
  • Cytoprotection
  • Disease Models, Animal
  • Down-Regulation / genetics*
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex I / metabolism
  • Female
  • Humans
  • Male
  • Mice
  • MicroRNAs / genetics
  • MicroRNAs / metabolism*
  • Mitochondria / pathology*
  • Mitochondria / ultrastructure
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / pathology
  • Mitochondrial Dynamics / genetics
  • Models, Biological
  • Organelle Biogenesis
  • Oryzias
  • Phenotype
  • Retinal Ganglion Cells / metabolism
  • Retinal Ganglion Cells / pathology

Substances

  • MIrn181 microRNA, human
  • MicroRNAs
  • Ndufs4 protein, mouse
  • mirn181 microRNA, mouse
  • Electron Transport Complex I