Reeve Amy K, Krishnan Kim J, Elson Joanna L, Morris Christopher M, Bender Andreas, Lightowlers Robert N, Turnbull Douglass M
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Am J Hum Genet. 2008 Jan;82(1):228-35. doi: 10.1016/j.ajhg.2007.09.018.
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.
线粒体DNA（mtDNA）缺失已在多种神经退行性疾病中得到研究。本研究旨在调查在三个患者组的单个黑质神经元中发现的mtDNA缺失的特征：对照组、帕金森病患者以及一名因多重mtDNA缺失导致帕金森综合征的患者。我们从这些神经元中鉴定出89个缺失，并检查了它们的断点特征。在这些神经元中检测到的mtDNA缺失类型没有差异。这些结果表明，导致这三个不同组中这些缺失形成的机制可能是相同的。
