Nature of mitochondrial DNA deletions in substantial nigra neurons

被引：102

作者：

Reeve, Amy K. ^{[1
]}

Krishnan, Kim J. ^{[1
,2
]}

Elson, Joanna L. ^{[1
]}

Morris, Christopher M. ^{[2
]}

Bender, Andreas ^{[3
]}

Lightowlers, Robert N. ^{[1
]}

Turnbull, Douglass M. ^{[1
,2
]}

机构：

[1] Univ Newcastle, Sch Med, Mitochondrial Res Grp, Sch Neurol Neurobiol & Psychiat, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Univ Newcastle, Inst Ageing & Hlth, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[3] Univ Munich, Dept Neurol, D-81377 Munich, Germany

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 82卷 / 01期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1016/j.ajhg.2007.09.018

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：228 / 235

页数：8

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