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

MT Lin, I Cantuti‐Castelvetri, K Zheng… - Annals of …, 2012 - Wiley Online Library
MT Lin, I Cantuti‐Castelvetri, K Zheng, KE Jackson, YB Tan, T Arzberger, AJ Lees…
Annals of neurology, 2012Wiley Online Library
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 …
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. Ann Neurol 2012;71:850–854
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