Somatic mitochondrial DNA mutations in early Parkinson and incidental Lewy body disease.

Abstract

Somatic mutations in mitochondrial DNA (mtDNA) are hypothesized to play a role in Parkinson disease (PD), but large increases in mtDNA mutations have not previously been found in PD, potentially because neurons with high mutation levels degenerate and thus are absent in late stage tissue. To address this issue, we studied early stage PD cases and cases of incidental Lewy body disease (ILBD), which is thought to represent presymptomatic PD. We show for the first time that mtDNA mutation levels in substantia nigra neurons are significantly elevated in this group of early PD and ILBD cases.

• Authors: Michael T Lin, Ippolita Cantuti-Castelvetri, Kangni Zheng, Katie E Jackson, Yong B Tan, Thomas Arzberger, Andrew J Lees, Rebecca A Betensky, M Flint Beal, David K Simon
• Journal: Annals of neurology (Ann Neurol) Vol. 71 Issue 6 Pg. 850-4 (Jun 2012) ISSN: 1531-8249 [Electronic] United States
• PMID: 22718549 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
• Copyright: Copyright © 2012 American Neurological Association.

Chemical References

• DNA, Mitochondrial

Topics

• Aged
• Aged, 80 and over
• Brain (metabolism)
• DNA Mutational Analysis
• DNA, Mitochondrial (genetics)
• Female
• Humans
• Laser Capture Microdissection
• Lewy Body Disease (genetics, pathology)
• Male
• Middle Aged
• Mutation (genetics)
• Neuroglia (pathology)
• Neurons (pathology)
• Parkinson Disease (genetics, pathology)