Lookup NU author(s): Dr Amy Reeve,
Dr Joanna Elson,
Dr Christopher Morris,
Professor Robert Lightowlers,
Professor Doug Turnbull
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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. © 2008 The American Society of Human Genetics.
Author(s): Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM
Publication type: Article
Publication status: Published
Journal: American Journal of Human Genetics
ISSN (print): 0002-9297
ISSN (electronic): 1537-6605
Publisher: Cell Press
PubMed id: 18179904
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