Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

Nay Wei Soong, David R. Hinton, Gino A Cortopassi, Norman Arnheim

Research output: Contribution to journalArticle

348 Scopus citations


The levels of a specific mitochondrial DNA deletion (mtDNA4977) measured in 12 brain regions of 6 normal adults 39 to 82 years old exhibited striking variation among anatomical locations. Comparisons of the same region among individuals showed an increase of mtDNA4977 with age. The three regions with the highest levels, caudate, putamen and substantia nigra, are characterized by a high dopamine metabolism. The breakdown of dopamine by mitochondrial MAO produces H2O2 which can lead to oxygen radical formation. We suggest that mtDNA4977 may be the "tip of the iceberg" of the spectrum of somatic mutations produced by oxidative damage.

Original languageEnglish (US)
Pages (from-to)318-323
Number of pages6
JournalNature Genetics
Issue number4
StatePublished - 1992
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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