Region-specific analysis of mitochondrial DNA deletions in neurodegenerative disorders in humans

Neurosci Lett. 2004 Mar 4;357(2):111-4. doi: 10.1016/j.neulet.2003.11.073.


Mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) aberrations has been implicated in the neuronal death in neurodegenerative disorders. Significant neuronal damage can occur if the percentage of mtDNA mutations may reach a critical threshold. mtDNA mutations also accumulate during normal aging. Here we quantified the 5 kB common mtDNA deletion (CD) using real-time PCR in various brain regions from neurodegenerative disorders and controls. We confirmed previous results that the CD levels increase with age, reaching highest levels in the basal ganglia. High CD levels were also found in affected regions in frontotemporal dementia, Parkinson's disease, and dementia with Lewy bodies, but not in Alzheimer's disease. This suggests that mtDNA damage may occur in a region-specific distribution in neurodegenerative disorders.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aging / genetics
  • Aging / metabolism
  • Aging / pathology
  • Brain / metabolism
  • Brain / pathology*
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Middle Aged
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology*


  • DNA, Mitochondrial