Possible relationship between conditions associated with chronic hypoxia and brain mitochondrial DNA deletions

C. R. Merril, S. Zullo, H. Ghanbari, M. M. Herman, J. E. Kleinman, L. B. Bigelow, J. J. Bartko, D. J. Sabourin

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


The brain relies heavily on aerobic metabolism which requires functional mitochondria. Mitochondria are subcellular organelles with their own genome which codes for 13 essential protein subunits. By employing PCR assays to examine brain tissue from 43 age-comparable individuals (between ages 34 and 73), we found a correlation between mitochondrial DNA deletion mutations, mtDNA4977 deletions, and conditions associated with chronic hypoxia. In prior studies, utilizing only 6 to 12 clinical samples, mtDNA4977 deletions were reported to increase in specific regions of the brain with aging. However, we found 12-fold and 5-fold higher levels of mtDNA4977 deletions in the putamen and the superior frontal gyrus of the cortex, respectively, from individuals who had conditions associated with chronic hypoxia when compared with individuals without evidence of such conditions. These findings suggest that chronic hypoxia should be more closely examined in the pathophysiology of central nervous system diseases.

Original languageEnglish (US)
Pages (from-to)172-177
Number of pages6
JournalArchives of Biochemistry and Biophysics
Issue number1
StatePublished - Feb 1 1996
Externally publishedYes


  • DNA deletion mutations
  • alcoholism
  • brain
  • cardiovascular disease
  • chronic hypoxia
  • mitochondria
  • polymerase chain reaction
  • pulmonary disease
  • putamen
  • schizophrenia
  • suicide
  • superior frontal gyrus

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology


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