GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.
Identifieur interne : 000118 ( PubMed/Corpus ); précédent : 000117; suivant : 000119GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.
Auteurs : Yi Guo ; Joseph Jankovic ; Shaihong Zhu ; Weidong Le ; Zhi Song ; Wenjie Xie ; Daoguang Liao ; Huarong Yang ; Hao DengSource :
- Neuroscience letters ; 2009.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- geographic : North America.
- genetics : European Continental Ancestry Group, Parkinson Disease.
- Female, Humans, Male, Middle Aged, Mutation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational.
Abstract
Parkinson disease (PD) is one of the most common neurodegenerative disorders with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. At least thirteen gene loci responsible for PD or parkinsonism have been found and nine causative genes have been identified. Recently, Asn56Ser or Asn457Thr mutations in the Grb10-Interacting GYF Protein-2 gene (GIGYF2) were found to occur in about 2.4% familial PD Italian and French patients. We conducted genetic examination of Asn56Ser or Asn457Thr mutations, but none was found in 310 PD patients from North America. We did identify a non-disease-associated polymorphism Pro460Thr. Our results suggest that the GIGYF2 Asn56Ser and Asn457Thr mutations are a rare cause of PD in North American Caucasian population.
DOI: 10.1016/j.neulet.2009.03.039
PubMed: 19429085
Links to Exploration step
pubmed:19429085Le document en format XML
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<author><name sortKey="Guo, Yi" sort="Guo, Yi" uniqKey="Guo Y" first="Yi" last="Guo">Yi Guo</name>
<affiliation><nlm:affiliation>Department of Medical Information, Xiangya School of Medicine, Central South University, Changsha, China.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<author><name sortKey="Zhu, Shaihong" sort="Zhu, Shaihong" uniqKey="Zhu S" first="Shaihong" last="Zhu">Shaihong Zhu</name>
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<author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name>
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<author><name sortKey="Song, Zhi" sort="Song, Zhi" uniqKey="Song Z" first="Zhi" last="Song">Zhi Song</name>
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<author><name sortKey="Xie, Wenjie" sort="Xie, Wenjie" uniqKey="Xie W" first="Wenjie" last="Xie">Wenjie Xie</name>
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<author><name sortKey="Liao, Daoguang" sort="Liao, Daoguang" uniqKey="Liao D" first="Daoguang" last="Liao">Daoguang Liao</name>
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<author><name sortKey="Yang, Huarong" sort="Yang, Huarong" uniqKey="Yang H" first="Huarong" last="Yang">Huarong Yang</name>
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<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name>
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<author><name sortKey="Song, Zhi" sort="Song, Zhi" uniqKey="Song Z" first="Zhi" last="Song">Zhi Song</name>
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<author><name sortKey="Yang, Huarong" sort="Yang, Huarong" uniqKey="Yang H" first="Huarong" last="Yang">Huarong Yang</name>
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<series><title level="j">Neuroscience letters</title>
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<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>North America</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Single-Stranded Conformational</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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<term>Parkinson Disease</term>
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<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Polymerase Chain Reaction</term>
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<front><div type="abstract" xml:lang="en">Parkinson disease (PD) is one of the most common neurodegenerative disorders with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. At least thirteen gene loci responsible for PD or parkinsonism have been found and nine causative genes have been identified. Recently, Asn56Ser or Asn457Thr mutations in the Grb10-Interacting GYF Protein-2 gene (GIGYF2) were found to occur in about 2.4% familial PD Italian and French patients. We conducted genetic examination of Asn56Ser or Asn457Thr mutations, but none was found in 310 PD patients from North America. We did identify a non-disease-associated polymorphism Pro460Thr. Our results suggest that the GIGYF2 Asn56Ser and Asn457Thr mutations are a rare cause of PD in North American Caucasian population.</div>
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<Abstract><AbstractText>Parkinson disease (PD) is one of the most common neurodegenerative disorders with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. At least thirteen gene loci responsible for PD or parkinsonism have been found and nine causative genes have been identified. Recently, Asn56Ser or Asn457Thr mutations in the Grb10-Interacting GYF Protein-2 gene (GIGYF2) were found to occur in about 2.4% familial PD Italian and French patients. We conducted genetic examination of Asn56Ser or Asn457Thr mutations, but none was found in 310 PD patients from North America. We did identify a non-disease-associated polymorphism Pro460Thr. Our results suggest that the GIGYF2 Asn56Ser and Asn457Thr mutations are a rare cause of PD in North American Caucasian population.</AbstractText>
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