Mutational analysis of parkin and PINK1 in multiple system atrophy

被引：13

作者：

Brooks, Janet A. ^{[1
]}

Houlden, Henry ^{[2
,3
]}

Melchers, Anna ^{[2
,3
]}

Islam, Ansha J. ^{[1
]}

Ding, Jinhui ^{[1
]}

Li, Abi ^{[2
,3
]}

Paudel, Reema ^{[2
,3
]}

Revesz, Tamas ^{[2
,3
]}

Holton, Janice L. ^{[2
,3
]}

Wood, Nick ^{[2
,3
]}

Lees, Andrew ^{[2
,3
]}

Singleton, Andrew B. ^{[1
]}

Scholz, Sonja W. ^{[1
,2
,3
]}

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[3] UCL, Inst Neurol, Reta Lila Weston Labs, London WC1N 3BG, England

来源：

NEUROBIOLOGY OF AGING | 2011年 / 32卷 / 03期

基金：

英国医学研究理事会;

关键词：

Multiple system atrophy; Parkinson's disease; PINK1; Parkin; DISEASE;

D O I：

10.1016/j.neurobiolaging.2009.11.020

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Multiple system atrophy (MSA) and Parkinson's disease (PD) are progressive neurodegenerative disorders with overlapping clinical, biochemical and genetic features. To test the hypothesis that the PD genes parkin and PINK1 also play a role in the pathogenesis of MSA, we performed a mutational screening study involving 87 pathologically proven MSA cases. In parkin we identified eight sequence variants and four heterozygous deletions and in PINK1 we identified nine variants of which two silent mutations have not been previously reported (p.Gly189Gly and p.Arg337Arg). The frequencies of the observed variants were not significantly different from previously published control data and none of the possibly pathogenic variants were found in a homozygous state. Our results indicate that genetic variants at the parkin and PINK1 loci do not play a critical role in the pathogenesis of MSA. Published by Elsevier Inc.

引用

页码：548.e5 / 548.e7

页数：3

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