Mutational analysis of parkin and PINK1 in multiple system atrophy

Janet A. Brooks; Henry Houlden; Anna Melchers; Ansha J. Islam; Jinhui Ding; Abi Li; Reema Paudel; Tamas Revesz; Janice L. Holton; Nick Wood; Andrew Lees; Andrew B. Singleton; Sonja W. Scholz

doi:10.1016/j.neurobiolaging.2009.11.020

Mutational analysis of parkin and PINK1 in multiple system atrophy

Janet A. Brooks, Henry Houlden, Anna Melchers, Ansha J. Islam, Jinhui Ding, Abi Li, Reema Paudel, Tamas Revesz, Janice L. Holton, Nick Wood, Andrew Lees, Andrew B. Singleton, Sonja W. Scholz

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	548.e5-548.e7
Journal	Neurobiology of Aging
Volume	32
Issue number	3
DOIs	https://doi.org/10.1016/j.neurobiolaging.2009.11.020
State	Published - Mar 2011
Externally published	Yes

Keywords

Multiple system atrophy
PINK1
Parkin
Parkinson's disease

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10.1016/j.neurobiolaging.2009.11.020

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title = "Mutational analysis of parkin and PINK1 in multiple system atrophy",

abstract = "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.",

keywords = "Multiple system atrophy, PINK1, Parkin, Parkinson's disease",

author = "Brooks, {Janet A.} and Henry Houlden and Anna Melchers and Islam, {Ansha J.} and Jinhui Ding and Abi Li and Reema Paudel and Tamas Revesz and Holton, {Janice L.} and Nick Wood and Andrew Lees and Singleton, {Andrew B.} and Scholz, {Sonja W.}",

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AU - Brooks, Janet A.

AU - Houlden, Henry

AU - Melchers, Anna

AU - Islam, Ansha J.

AU - Ding, Jinhui

AU - Li, Abi

AU - Paudel, Reema

AU - Revesz, Tamas

AU - Holton, Janice L.

AU - Wood, Nick

AU - Lees, Andrew

AU - Singleton, Andrew B.

AU - Scholz, Sonja W.

PY - 2011/3

Y1 - 2011/3

N2 - 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.

AB - 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.

KW - Multiple system atrophy

KW - PINK1

KW - Parkin

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Mutational analysis of parkin and PINK1 in multiple system atrophy

Abstract

Keywords

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