Somatic mitochondrial DNA mutations in early Parkinson and incidental Lewy body disease.
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.
Department of Neurology and Neuroscience, Weill Cornell Medical College, New York, NY, USA.
Michael T
MT
Lin
Ippolita
I
Cantuti-Castelvetri
Kangni
K
Zheng
Katie E
KE
Jackson
Yong B
YB
Tan
Thomas
T
Arzberger
Andrew J
AJ
Lees
Rebecca A
RA
Betensky
M Flint
MF
Beal
David K
DK
Simon
D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000378:metabolism; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D061346:Laser Capture Microdissection; D020961:Lewy Body Disease / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009457:Neuroglia / Q000473:pathology; D009474:Neurons / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology
D004272:DNA, Mitochondrial