ATP13A2 variability in Taiwanese Parkinson's disease
Identifieur interne : 000406 ( Main/Exploration ); précédent : 000405; suivant : 000407ATP13A2 variability in Taiwanese Parkinson's disease
Auteurs : Chiung-Mei Chen [Taïwan] ; Chih-Hsin Lin [Taïwan] ; Hsueh-Fen Juan [Taïwan] ; Fen-Ju Hu [Taïwan] ; Ya-Chin Hsiao [Taïwan] ; Hsin-Yi Chang [Taïwan] ; Chih-Ying Chao [Taïwan] ; I-Cheng Chen [Taïwan] ; Li-Ching Lee [Taïwan] ; Tsu-Wei Wang [Taïwan] ; Ya-Tang Chen [Taïwan] ; Yi-Tsun Chen [Taïwan] ; Guey-Jen Lee-Chen [Taïwan] ; Yih-Ru Wu [Taïwan]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2011-09.
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Abstract
Mutations in ATP13A2 have been reported to associate with Parkinson's disease (PD). This study investigates the contribution of genetic variants in ATP13A2 to Taiwanese PD. ATP13A2 cDNA fragments from 65 early onset PD (onset <50 years) were sequenced. The identified variants were validated in a cohort of PD (n = 493) and ethnically matched controls (n = 585). A novel heterozygous G1014S, located at the conserved seventh transmembrane domain of ATP13A2 protein, was identified in an early onset PD patient, which was absent in 585 normal controls. Additionally, a reported heterozygous A746T was found in two PD patients and four controls. The clinical features and 99mTc‐TRODAT‐1 single photon emission computed tomography (SPECT) image of the patients carrying G1014S and A746T were similar to that of idiopathic PD. One normal control with A746T showed an asymmetric reduction of 99mT TRODAT‐1 uptake in the right striatum. Under oxidative stress or apoptotic stimulus, lymphoblastoid cells carrying either A764T or G1014S showed increased caspase 3 activity compared with the controls. The rates of decay for G1014S and A746T proteins were more or less reduced in cycloheximide chase experiment. In silico modeling of G1014S exhibited a more stable feature than wild‐type, and G1014S is mislocalized mainly in the intralysosomal space, which is coherent with the prediction of prohibiting N‐myristoylation and membrane association. We therefore hypothesize that rare variants of ATP13A2 may contribute to PD susceptibility in Taiwan. The role played by ATP13A2 variants in PD remains to be clarified. © 2011 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.31214
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first="Chih-Ying" last="Chao">Chih-Ying Chao</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Life Science, National Taiwan Normal University, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Chen, I Heng" sort="Chen, I Heng" uniqKey="Chen I" first="I-Cheng" last="Chen">I-Cheng Chen</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital, Chang‐Gung University College of Medicine, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Lee, Li Hing" sort="Lee, Li Hing" uniqKey="Lee L" first="Li-Ching" last="Lee">Li-Ching Lee</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Life Science, National Taiwan Normal University, 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xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Life Science, National Taiwan Normal University, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Lee Hen, Guey En" sort="Lee Hen, Guey En" uniqKey="Lee Hen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Life Science, National Taiwan Normal University, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Guey‐Jen Lee‐Chen, Department of Life Science, National Taiwan Normal University, Taipei 11677, Taiwan.Yih‐Ru Wu, Department of Neurology, Chang Gung Memorial Hospital, Chang‐Gung University College of Medicine, Taipei 10507</wicri:regionArea><wicri:noRegion>Taipei 10507</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Yih U" sort="Wu, Yih U" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital, Chang‐Gung University College of Medicine, Taipei</wicri:regionArea><wicri:noRegion>Taipei</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Guey‐Jen Lee‐Chen, Department of Life Science, National Taiwan Normal University, Taipei 11677, Taiwan.Yih‐Ru Wu, Department of Neurology, Chang Gung Memorial Hospital, Chang‐Gung University College of Medicine, Taipei 10507</wicri:regionArea><wicri:noRegion>Taipei 10507</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-09">2011-09</date><biblScope unit="volume">156</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="720">720</biblScope><biblScope unit="page" to="729">729</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">31668EE8E9289BFAB3EAB1D82745984204E744CD</idno><idno type="DOI">10.1002/ajmg.b.31214</idno><idno type="ArticleID">AJMG31214</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP13A2</term><term>Parkinson's disease</term><term>expression study</term><term>mutation screening</term><term>protein structure modeling</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in ATP13A2 have been reported to associate with Parkinson's disease (PD). This study investigates the contribution of genetic variants in ATP13A2 to Taiwanese PD. ATP13A2 cDNA fragments from 65 early onset PD (onset <50 years) were sequenced. The identified variants were validated in a cohort of PD (n = 493) and ethnically matched controls (n = 585). A novel heterozygous G1014S, located at the conserved seventh transmembrane domain of ATP13A2 protein, was identified in an early onset PD patient, which was absent in 585 normal controls. Additionally, a reported heterozygous A746T was found in two PD patients and four controls. The clinical features and 99mTc‐TRODAT‐1 single photon emission computed tomography (SPECT) image of the patients carrying G1014S and A746T were similar to that of idiopathic PD. One normal control with A746T showed an asymmetric reduction of 99mT TRODAT‐1 uptake in the right striatum. Under oxidative stress or apoptotic stimulus, lymphoblastoid cells carrying either A764T or G1014S showed increased caspase 3 activity compared with the controls. The rates of decay for G1014S and A746T proteins were more or less reduced in cycloheximide chase experiment. In silico modeling of G1014S exhibited a more stable feature than wild‐type, and G1014S is mislocalized mainly in the intralysosomal space, which is coherent with the prediction of prohibiting N‐myristoylation and membrane association. We therefore hypothesize that rare variants of ATP13A2 may contribute to PD susceptibility in Taiwan. The role played by ATP13A2 variants in PD remains to be clarified. © 2011 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Taïwan</li></country></list><tree><country name="Taïwan"><noRegion><name sortKey="Chen, Chiung Ei" sort="Chen, Chiung Ei" uniqKey="Chen C" first="Chiung-Mei" last="Chen">Chiung-Mei Chen</name></noRegion><name sortKey="Chang, Hsin I" sort="Chang, Hsin I" uniqKey="Chang H" first="Hsin-Yi" last="Chang">Hsin-Yi Chang</name><name sortKey="Chao, Chih Ing" sort="Chao, Chih Ing" uniqKey="Chao C" first="Chih-Ying" last="Chao">Chih-Ying Chao</name><name sortKey="Chen, I Heng" sort="Chen, I Heng" uniqKey="Chen I" first="I-Cheng" last="Chen">I-Cheng Chen</name><name sortKey="Chen, Ya Ang" sort="Chen, Ya Ang" uniqKey="Chen Y" first="Ya-Tang" last="Chen">Ya-Tang Chen</name><name sortKey="Chen, Yi Sun" sort="Chen, Yi Sun" uniqKey="Chen Y" first="Yi-Tsun" last="Chen">Yi-Tsun Chen</name><name sortKey="Hsiao, Ya Hin" sort="Hsiao, Ya Hin" uniqKey="Hsiao Y" first="Ya-Chin" last="Hsiao">Ya-Chin Hsiao</name><name sortKey="Hu, Fen U" sort="Hu, Fen U" uniqKey="Hu F" first="Fen-Ju" last="Hu">Fen-Ju Hu</name><name sortKey="Juan, Hsueh En" sort="Juan, Hsueh En" uniqKey="Juan H" first="Hsueh-Fen" last="Juan">Hsueh-Fen Juan</name><name sortKey="Lee Hen, Guey En" sort="Lee Hen, Guey En" uniqKey="Lee Hen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><name sortKey="Lee Hen, Guey En" sort="Lee Hen, Guey En" uniqKey="Lee Hen G" first="Guey-Jen" last="Lee-Chen">Guey-Jen Lee-Chen</name><name sortKey="Lee, Li Hing" sort="Lee, Li Hing" uniqKey="Lee L" first="Li-Ching" last="Lee">Li-Ching Lee</name><name sortKey="Lin, Chih Sin" sort="Lin, Chih Sin" uniqKey="Lin C" first="Chih-Hsin" last="Lin">Chih-Hsin Lin</name><name sortKey="Wang, Tsu Ei" sort="Wang, Tsu Ei" uniqKey="Wang T" first="Tsu-Wei" last="Wang">Tsu-Wei Wang</name><name sortKey="Wu, Yih U" sort="Wu, Yih U" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name><name sortKey="Wu, Yih U" sort="Wu, Yih U" uniqKey="Wu Y" first="Yih-Ru" last="Wu">Yih-Ru Wu</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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