Somatic mitochondrial DNA mutations in early parkinson and incidental lewy body disease

被引：102

作者：

Lin, Michael T. ^{[3
]}

Cantuti-Castelvetri, Ippolita ^{[2
,4
]}

Zheng, Kangni ^{[1
,2
]}

Jackson, Katie E. ^{[1
,2
]}

Tan, Yong B. ^{[1
,2
]}

Arzberger, Thomas ^{[5
]}

Lees, Andrew J. ^{[6
]}

Betensky, Rebecca A. ^{[7
]}

Beal, M. Flint ^{[3
]}

Simon, David K. ^{[1
,2
]}

机构：

[1] Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA

[2] Harvard Univ, Sch Med, Boston, MA 02215 USA

[3] Weill Cornell Med Coll, Dept Neurol & Neurosci, New York, NY USA

[4] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

[5] Univ Munich, Ctr Neuropathol & Prion Res, Munich, Germany

[6] UCL, Reta Lila Weston Inst Neurol Studies, Inst Neurol, London, England

[7] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA

来源：

ANNALS OF NEUROLOGY | 2012年 / 71卷 / 06期

关键词：

SUBSTANTIA-NIGRA; NEURONS; DAMAGE; BRAIN; CHAIN; MTDNA;

D O I：

10.1002/ana.23568

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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;71:850854

引用

页码：850 / 854

页数：5

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