mtDNA mutations and their role in aging, diseases and forensic sciences

Sara C. Zapico, Douglas H. Ubelaker

Research output: Contribution to journalReview articlepeer-review

55 Scopus citations


Mitochondria are independent organelles with their own DNA. As a primary function, mitochondria produce the energy for the cell through Oxidative Phosphorylation (OXPHOS) in the Electron Transport Chain (ETC). One of the toxic products of this process is Reactive Oxygen Species (ROS), which can induce oxidative damage in macromolecules like lipids, proteins and DNA. Mitochondrial DNA (mtDNA) is less protected and has fewer reparation mechanisms than nuclear DNA (nDNA), and as such is more exposed to oxidative, mutation-inducing damage. This review analyzes the causes and consequences of mtDNA mutations and their relationship with the aging process. Neurodegenerative diseases, related with the aging, are consequences of mtDNA mutations resulting in a decrease in mitochondrial function. Also described are "mitochondrial diseases", pathologies produced by mtDNA mutations and whose symptoms are related with mitochondrial dysfunction. Finally, mtDNA haplogroups are defined in this review; these groups are important for determination of geographical origin of an individual. Additionally, different haplogroups exhibit variably longevity and risk of certain diseases. mtDNA mutations in aging and haplogroups are of special interest to forensic science research. Therefore this review will help to clarify the key role of mtDNA mutations in these processes and support further research in this area.

Original languageEnglish (US)
Pages (from-to)364-380
Number of pages17
JournalAging and Disease
Issue number6
StatePublished - 2013
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Geriatrics and Gerontology
  • Clinical Neurology
  • Cell Biology


  • Aging
  • Diseases
  • Electron transport chain (ETC)
  • Forensic sciences
  • Mitochondrial DNA (mtDNA)
  • Reactive oxygen species (ROS)


Dive into the research topics of 'mtDNA mutations and their role in aging, diseases and forensic sciences'. Together they form a unique fingerprint.

Cite this