Mitochondrial DNA mutations in human degenerative diseases and aging

Douglas C. Wallace, John M. Shoffner, Ian Trounce, Michael D. Brown, Scott W. Ballinger, Marisol Corral-Debrinski, Terzah Horton, Albert S. Jun, Marie T. Lott

Research output: Contribution to journalArticlepeer-review

202 Scopus citations


A wide variety of mitochondrial DNA (mtDNA) mutations have recently been identified in degenerative diseases of the brain, heart, skeletal muscle, kidney and endocrine system. Generally, individuals inheriting these mitochondrial diseases are relatively normal in early life, develop symptoms during childhood, mid-life, or old age depending on the severity of the maternally-inherited mtDNA mutation; and then undergo a progressive decline. These novel features of mtDNA disease are proposed to be the product of the high dependence of the target organs on mitochondrial bioenergetics, and the cumulative oxidative phosphorylation (OXPHOS) defect caused by the inherited mtDNA mutation together with the age-related accumulation mtDNA mutations in post-mitotic tissues.

Original languageEnglish (US)
Pages (from-to)141-151
Number of pages11
JournalBBA - Molecular Basis of Disease
Issue number1
StatePublished - May 24 1995
Externally publishedYes


  • Mitochondrion
  • Oxidative phosphorylation
  • mtDNA mutation

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology


Dive into the research topics of 'Mitochondrial DNA mutations in human degenerative diseases and aging'. Together they form a unique fingerprint.

Cite this