Nature of mitochondrial DNA deletions in substantia nigra neurons

Am J Hum Genet. 2008 Jan;82(1):228-35. doi: 10.1016/j.ajhg.2007.09.018.

Abstract

Mitochondrial DNA (mtDNA) deletions have been investigated in a number of neurodegenerative diseases. This study aimed to investigate the characteristics of mtDNA deletions found in single substantia nigra neurons from three patient groups: controls, Parkinson disease patients, and a patient with Parkinsonism due to multiple mtDNA deletions. We have identified 89 deletions from these neurons and examined the breakpoint characteristics of them. There was no difference in the types of mtDNA deletions detected in these neurons. These results suggest that the mechanism leading to the formation of these deletions in these three distinct groups could be the same.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Case-Control Studies
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Gene Deletion
  • Humans
  • Neurons / metabolism*
  • Parkinson Disease / genetics*
  • Substantia Nigra / cytology
  • Substantia Nigra / metabolism*

Substances

  • DNA, Mitochondrial