Nature of mitochondrial DNA deletions in substantia nigra neurons.
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.
Reeve
Amy K
AK
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Krishnan
Kim J
KJ
Elson
Joanna L
JL
Morris
Christopher M
CM
Bender
Andreas
A
Lightowlers
Robert N
RN
Turnbull
Douglass M
DM
D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D009474:Neurons / Q000378:metabolism*; D010300:Parkinson Disease / Q000235:genetics*; D013378:Substantia Nigra / Q000166:cytology / Q000378:metabolism*
D004272:DNA, Mitochondrial