Mutation in mitochondrial DNA as a cause of presbyacusis

Audiol Neurootol. 2004 Jan-Feb;9(1):23-33. doi: 10.1159/000074184.


Much of the hearing loss that occurs in old age is likely to be due to the long-term deterioration of the mitochondria in the different structures of the cochlea. The current review surveys some of the basic information on mitochondria and mitochondrial DNA, as a background to their possible involvement in presbyacusis. It is likely that oxygen radicals damage mitochondrial DNA and other components of the mitochondria, such as their proteins and lipids. This further compromises both oxidative phosphorylation and the repair processes in mitochondria, setting up a vicious cycle of degradation. Evidence is presented from inherited point mutations on the possibly most critical sites for mutations in mitochondrial DNA associated with hearing loss. It is suggested that random sorting and clonal expansion of mutations both maintain the integrity of the pool of mitochondrial DNA molecules and give rise to the apoptosis that leads to loss of vulnerable cells, and hence to deafness. It is moreover suggested that apoptosis of the vulnerable cells of the inner ear may to some extent be preventable, or at least delayed.

Publication types

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

MeSH terms

  • Aging / genetics
  • Aging / metabolism
  • Cochlea / metabolism
  • Cochlea / pathology
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Humans
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Models, Genetic
  • Mutation*
  • Oxidative Phosphorylation
  • Penetrance
  • Presbycusis / genetics*
  • Presbycusis / metabolism
  • Presbycusis / pathology
  • Reactive Oxygen Species / metabolism


  • DNA, Mitochondrial
  • Reactive Oxygen Species