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Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

Lookup NU author(s): Dr Amy Reeve, Dr Joanna Elson, Dr Christopher Morris, Professor Robert Lightowlers, Emeritus 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.

Publication metadata

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

Year: 2008

Volume: 82

Issue: 1

Pages: 228-235

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1016/j.ajhg.2007.09.018

PubMed id: 18179904


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Funder referenceFunder name
Wellcome Trust
074454Wellcome Trust
G0700718Medical Research Council
G90/63Medical Research Council
G0400074Medical Research Council
G0502157Medical Research Council