Mitochondrial Diseases: Hope for the Future

Cell. 2020 Apr 2;181(1):168-188. doi: 10.1016/j.cell.2020.02.051. Epub 2020 Mar 26.


Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum of mutations in genes encoded by either the nuclear or the mitochondrial genome. Treatments for mitochondrial diseases are currently focused on symptomatic management rather than improving the biochemical defect caused by a particular mutation. This review focuses on the latest advances in the development of treatments for mitochondrial disease, both small molecules and gene therapies, as well as methods to prevent transmission of mitochondrial disease through the germline.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics
  • Genetic Therapy
  • Genome, Mitochondrial / genetics
  • Humans
  • Mitochondria / genetics*
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / therapy*
  • Mutation
  • NAD / metabolism
  • Reactive Oxygen Species / metabolism


  • DNA, Mitochondrial
  • Reactive Oxygen Species
  • NAD