Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease
Background Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have dist...
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| Veröffentlicht in: | Neurological sciences 2023-03, Vol.44 (3), p.905-912 |
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| container_title | Neurological sciences |
| container_volume | 44 |
| creator | Song, Na Wang, Yan Zhou, Liangxing Zhang, Junli Wu, Fan Li, Mengpeng Wang, Wei Liu, Yanming Lu, Xianjie Chen, Qingfa Zhang, Nan Yan, Yongjian Han, Fabin |
| description | Background
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants.
Methods
We sequenced the full coding regions and exon–intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients.
Results
In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD.
Conclusion
According to our study, the LRP10 gene may attribute to PD pathogenesis. |
| doi_str_mv | 10.1007/s10072-022-06496-9 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2740509788</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2740509788</sourcerecordid><originalsourceid>FETCH-LOGICAL-c375t-c76954fa10751dc0c889fed2b81d4dc9e3c4218305938da72fc4cbbe7f7cb02a3</originalsourceid><addsrcrecordid>eNp9kM9O3DAQhy0E4l_7AhwqS730kjKO7dg-VisKSCsVUHu2HGfCmu4620xWiBuvwev1Sch2F5B64OCxpfnmZ83H2ImArwLAnNK6lgWU46mUqwq3ww6FdlBIZezu9i2sUQfsiOgOAIQScp8dyEpJpUx1yK7PMeOQIg85zB8oEe9aPsyQT2-uBPDbsctT5pNZykjIl2FImAfi92mY8avQ_06Zuvz38Yl4kwgD4Qe214Y54cftfcx-fT_7Obkopj_OLyffpkWURg9FNJXTqg0CjBZNhGita7Epaysa1USHMqpSWAnaSdsEU7ZRxbpG05pYQxnkMfuyyV323Z8V0uAXiSLO5yFjtyJfGgUanLF2RD__h951q35ceE0ZbbXQsKbKDRX7jqjH1i_7tAj9gxfg16r9Rrgfhft_wr0bhz5to1f1ApvXkRfDIyA3AI2tfIv929_vxD4D65qLIw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2775851508</pqid></control><display><type>article</type><title>Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Song, Na ; Wang, Yan ; Zhou, Liangxing ; Zhang, Junli ; Wu, Fan ; Li, Mengpeng ; Wang, Wei ; Liu, Yanming ; Lu, Xianjie ; Chen, Qingfa ; Zhang, Nan ; Yan, Yongjian ; Han, Fabin</creator><creatorcontrib>Song, Na ; Wang, Yan ; Zhou, Liangxing ; Zhang, Junli ; Wu, Fan ; Li, Mengpeng ; Wang, Wei ; Liu, Yanming ; Lu, Xianjie ; Chen, Qingfa ; Zhang, Nan ; Yan, Yongjian ; Han, Fabin</creatorcontrib><description>Background
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants.
Methods
We sequenced the full coding regions and exon–intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients.
Results
In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD.
Conclusion
According to our study, the LRP10 gene may attribute to PD pathogenesis.</description><identifier>ISSN: 1590-1874</identifier><identifier>EISSN: 1590-3478</identifier><identifier>DOI: 10.1007/s10072-022-06496-9</identifier><identifier>PMID: 36434476</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Alzheimer's disease ; Chinese medicine ; East Asian People ; Exons ; Gait ; Genetic analysis ; Hospitals ; Humans ; Introns ; Laboratories ; LDL-Receptor Related Proteins - genetics ; Low density lipoprotein receptors ; Medicine ; Medicine & Public Health ; Minority & ethnic groups ; Movement disorders ; Mutation ; Neural coding ; Neurodegenerative diseases ; Neurology ; Neuroradiology ; Neurosciences ; Neurosurgery ; Original Article ; Parkinson Disease - genetics ; Parkinson's disease ; Pathogenesis ; Pathophysiology ; Polymorphism ; Psychiatry ; Receptor density ; Regenerative medicine ; Stem cells ; Tremor</subject><ispartof>Neurological sciences, 2023-03, Vol.44 (3), p.905-912</ispartof><rights>Fondazione Società Italiana di Neurologia 2022. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2022. Fondazione Società Italiana di Neurologia.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-c76954fa10751dc0c889fed2b81d4dc9e3c4218305938da72fc4cbbe7f7cb02a3</citedby><cites>FETCH-LOGICAL-c375t-c76954fa10751dc0c889fed2b81d4dc9e3c4218305938da72fc4cbbe7f7cb02a3</cites><orcidid>0000-0003-0220-0471</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10072-022-06496-9$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10072-022-06496-9$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36434476$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Song, Na</creatorcontrib><creatorcontrib>Wang, Yan</creatorcontrib><creatorcontrib>Zhou, Liangxing</creatorcontrib><creatorcontrib>Zhang, Junli</creatorcontrib><creatorcontrib>Wu, Fan</creatorcontrib><creatorcontrib>Li, Mengpeng</creatorcontrib><creatorcontrib>Wang, Wei</creatorcontrib><creatorcontrib>Liu, Yanming</creatorcontrib><creatorcontrib>Lu, Xianjie</creatorcontrib><creatorcontrib>Chen, Qingfa</creatorcontrib><creatorcontrib>Zhang, Nan</creatorcontrib><creatorcontrib>Yan, Yongjian</creatorcontrib><creatorcontrib>Han, Fabin</creatorcontrib><title>Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease</title><title>Neurological sciences</title><addtitle>Neurol Sci</addtitle><addtitle>Neurol Sci</addtitle><description>Background
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants.
Methods
We sequenced the full coding regions and exon–intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients.
Results
In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD.
Conclusion
According to our study, the LRP10 gene may attribute to PD pathogenesis.</description><subject>Alzheimer's disease</subject><subject>Chinese medicine</subject><subject>East Asian People</subject><subject>Exons</subject><subject>Gait</subject><subject>Genetic analysis</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Introns</subject><subject>Laboratories</subject><subject>LDL-Receptor Related Proteins - genetics</subject><subject>Low density lipoprotein receptors</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Minority & ethnic groups</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Neural coding</subject><subject>Neurodegenerative diseases</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Neurosurgery</subject><subject>Original Article</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Pathogenesis</subject><subject>Pathophysiology</subject><subject>Polymorphism</subject><subject>Psychiatry</subject><subject>Receptor density</subject><subject>Regenerative medicine</subject><subject>Stem cells</subject><subject>Tremor</subject><issn>1590-1874</issn><issn>1590-3478</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kM9O3DAQhy0E4l_7AhwqS730kjKO7dg-VisKSCsVUHu2HGfCmu4620xWiBuvwev1Sch2F5B64OCxpfnmZ83H2ImArwLAnNK6lgWU46mUqwq3ww6FdlBIZezu9i2sUQfsiOgOAIQScp8dyEpJpUx1yK7PMeOQIg85zB8oEe9aPsyQT2-uBPDbsctT5pNZykjIl2FImAfi92mY8avQ_06Zuvz38Yl4kwgD4Qe214Y54cftfcx-fT_7Obkopj_OLyffpkWURg9FNJXTqg0CjBZNhGita7Epaysa1USHMqpSWAnaSdsEU7ZRxbpG05pYQxnkMfuyyV323Z8V0uAXiSLO5yFjtyJfGgUanLF2RD__h951q35ceE0ZbbXQsKbKDRX7jqjH1i_7tAj9gxfg16r9Rrgfhft_wr0bhz5to1f1ApvXkRfDIyA3AI2tfIv929_vxD4D65qLIw</recordid><startdate>20230301</startdate><enddate>20230301</enddate><creator>Song, Na</creator><creator>Wang, Yan</creator><creator>Zhou, Liangxing</creator><creator>Zhang, Junli</creator><creator>Wu, Fan</creator><creator>Li, Mengpeng</creator><creator>Wang, Wei</creator><creator>Liu, Yanming</creator><creator>Lu, Xianjie</creator><creator>Chen, Qingfa</creator><creator>Zhang, Nan</creator><creator>Yan, Yongjian</creator><creator>Han, Fabin</creator><general>Springer International Publishing</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-0220-0471</orcidid></search><sort><creationdate>20230301</creationdate><title>Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease</title><author>Song, Na ; Wang, Yan ; Zhou, Liangxing ; Zhang, Junli ; Wu, Fan ; Li, Mengpeng ; Wang, Wei ; Liu, Yanming ; Lu, Xianjie ; Chen, Qingfa ; Zhang, Nan ; Yan, Yongjian ; Han, Fabin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-c76954fa10751dc0c889fed2b81d4dc9e3c4218305938da72fc4cbbe7f7cb02a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Alzheimer's disease</topic><topic>Chinese medicine</topic><topic>East Asian People</topic><topic>Exons</topic><topic>Gait</topic><topic>Genetic analysis</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Introns</topic><topic>Laboratories</topic><topic>LDL-Receptor Related Proteins - genetics</topic><topic>Low density lipoprotein receptors</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Minority & ethnic groups</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>Neural coding</topic><topic>Neurodegenerative diseases</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><topic>Neurosurgery</topic><topic>Original Article</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Pathogenesis</topic><topic>Pathophysiology</topic><topic>Polymorphism</topic><topic>Psychiatry</topic><topic>Receptor density</topic><topic>Regenerative medicine</topic><topic>Stem cells</topic><topic>Tremor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Song, Na</creatorcontrib><creatorcontrib>Wang, Yan</creatorcontrib><creatorcontrib>Zhou, Liangxing</creatorcontrib><creatorcontrib>Zhang, Junli</creatorcontrib><creatorcontrib>Wu, Fan</creatorcontrib><creatorcontrib>Li, Mengpeng</creatorcontrib><creatorcontrib>Wang, Wei</creatorcontrib><creatorcontrib>Liu, Yanming</creatorcontrib><creatorcontrib>Lu, Xianjie</creatorcontrib><creatorcontrib>Chen, Qingfa</creatorcontrib><creatorcontrib>Zhang, Nan</creatorcontrib><creatorcontrib>Yan, Yongjian</creatorcontrib><creatorcontrib>Han, Fabin</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Song, Na</au><au>Wang, Yan</au><au>Zhou, Liangxing</au><au>Zhang, Junli</au><au>Wu, Fan</au><au>Li, Mengpeng</au><au>Wang, Wei</au><au>Liu, Yanming</au><au>Lu, Xianjie</au><au>Chen, Qingfa</au><au>Zhang, Nan</au><au>Yan, Yongjian</au><au>Han, Fabin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease</atitle><jtitle>Neurological sciences</jtitle><stitle>Neurol Sci</stitle><addtitle>Neurol Sci</addtitle><date>2023-03-01</date><risdate>2023</risdate><volume>44</volume><issue>3</issue><spage>905</spage><epage>912</epage><pages>905-912</pages><issn>1590-1874</issn><eissn>1590-3478</eissn><abstract>Background
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor–related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants.
Methods
We sequenced the full coding regions and exon–intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients.
Results
In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD.
Conclusion
According to our study, the LRP10 gene may attribute to PD pathogenesis.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>36434476</pmid><doi>10.1007/s10072-022-06496-9</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0003-0220-0471</orcidid></addata></record> |
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| subjects | Alzheimer's disease Chinese medicine East Asian People Exons Gait Genetic analysis Hospitals Humans Introns Laboratories LDL-Receptor Related Proteins - genetics Low density lipoprotein receptors Medicine Medicine & Public Health Minority & ethnic groups Movement disorders Mutation Neural coding Neurodegenerative diseases Neurology Neuroradiology Neurosciences Neurosurgery Original Article Parkinson Disease - genetics Parkinson's disease Pathogenesis Pathophysiology Polymorphism Psychiatry Receptor density Regenerative medicine Stem cells Tremor |
| title | Genetic analysis of the LRP10 gene in Chinese patients with Parkinson’s disease |
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